CleftGeneDB-Search

Gene: KCNJ2

Basic information

Tag	Content
Uniprot ID	P63252; O15110; P48049;
Entrez ID	3759
Genbank protein ID	AAF73241.1; AAB50277.1; AAC50072.1; AAC39555.1; AAA91781.1; AAB88797.1; AAA64282.1; AAF73242.1;
Genbank nucleotide ID	NM_000891.2
Ensembl protein ID	ENSP00000441848; ENSP00000243457;
Ensembl nucleotide ID	ENSG00000123700
Gene name	Inward rectifier potassium channel 2
Gene symbol	KCNJ2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium or cesium.
Sequence	MGSVRTNRYS IVSSEEDGMK LATMAVANGF GNGKSKVHTR QQCRSRFVKK DGHCNVQFIN 60 VGEKGQRYLA DIFTTCVDIR WRWMLVIFCL AFVLSWLFFG CVFWLIALLH GDLDASKEGK 120 ACVSEVNSFT AAFLFSIETQ TTIGYGFRCV TDECPIAVFM VVFQSIVGCI IDAFIIGAVM 180 AKMAKPKKRN ETLVFSHNAV IAMRDGKLCL MWRVGNLRKS HLVEAHVRAQ LLKSRITSEG 240 EYIPLDQIDI NVGFDSGIDR IFLVSPITIV HEIDEDSPLY DLSKQDIDNA DFEIVVILEG 300 MVEATAMTTQ CRSSYLANEI LWGHRYEPVL FEEKHYYKVD YSRFHKTYEV PNTPLCSARD 360 LAEKKYILSN ANSFCYENEV ALTSKEEDDS ENGVPESTST DTPPDIDLHN QASVPLEPRP 420 LRRESEI 427

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
6SPZ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	KCNJ2	281883	O19182		Bos taurus	Prediction	More>>
1:1 ortholog	KCNJ2	403717	Q9MYY9		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	KCNJ2	102168940	A0A452DN29		Capra hircus	Prediction	More>>
1:1 ortholog	KCNJ2	100052953	F7C3Q3		Equus caballus	Prediction	More>>
1:1 ortholog	KCNJ2	3759	P63252		Homo sapiens	Prediction	More>>
1:1 ortholog	Kcnj2	16518	P35561	CPO	Mus musculus	Publication	More>>
1:1 ortholog	KCNJ2	468312	H2QDR5		Pan troglodytes	Prediction	More>>
1:1 ortholog	KCNJ2	397293	O18839		Sus scrofa	Prediction	More>>
1:1 ortholog	KCNJ2	100008987	P49656		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Kcnj2	29712	Q64273		Rattus norvegicus	Prediction	More>>
1:1 ortholog	kcnj2a	564522	E7FGH1		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000170969	p.Met1Thr	missense variant	-	NC_000017.11:g.70175041T>C	ClinVar
NCI-TCGA novel	p.Gly2Asp	missense variant	-	NC_000017.11:g.70175044G>A	NCI-TCGA
rs756248184	p.Val4Met	missense variant	-	NC_000017.11:g.70175049G>A	ExAC,gnomAD
rs1042485	p.Arg5Ter	stop gained	-	NC_000017.11:g.70175052C>T	NCI-TCGA
rs1042485	p.Arg5Gly	missense variant	-	NC_000017.11:g.70175052C>G	gnomAD
rs1042485	p.Arg5Ter	stop gained	-	NC_000017.11:g.70175052C>T	gnomAD
rs764311511	p.Arg5Gln	missense variant	-	NC_000017.11:g.70175053G>A	ExAC,gnomAD
rs754091630	p.Thr6Ile	missense variant	-	NC_000017.11:g.70175056C>T	ExAC,gnomAD
rs140090605	p.Arg8His	missense variant	-	NC_000017.11:g.70175062G>A	ESP,ExAC,TOPMed,gnomAD
rs529080615	p.Arg8Cys	missense variant	-	NC_000017.11:g.70175061C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs529080615	p.Arg8Cys	missense variant	-	NC_000017.11:g.70175061C>T	NCI-TCGA
rs1187051577	p.Ser10Asn	missense variant	-	NC_000017.11:g.70175068G>A	TOPMed,gnomAD
rs1252050049	p.Ser10Gly	missense variant	-	NC_000017.11:g.70175067A>G	TOPMed
COSM983652	p.Val12Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175073G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser13Thr	missense variant	-	NC_000017.11:g.70175076T>A	NCI-TCGA
COSM1303267	p.Ser14Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175080C>T	NCI-TCGA Cosmic
COSM4894348	p.Glu15Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175084A>T	NCI-TCGA Cosmic
COSM3796013	p.Glu15Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.70175082G>T	NCI-TCGA Cosmic
rs1203915572	p.Glu16Gln	missense variant	-	NC_000017.11:g.70175085G>C	TOPMed
rs1470684052	p.Glu16Asp	missense variant	-	NC_000017.11:g.70175087A>C	TOPMed,gnomAD
rs758776917	p.Glu16Gly	missense variant	-	NC_000017.11:g.70175086A>G	ExAC,TOPMed,gnomAD
RCV000656202	p.Asp17Asn	missense variant	Wolff-Parkinson-White pattern	NC_000017.11:g.70175088G>A	ClinVar
rs1331601602	p.Asp17His	missense variant	-	NC_000017.11:g.70175088G>C	gnomAD
rs780600986	p.Asp17Gly	missense variant	-	NC_000017.11:g.70175089A>G	ExAC,gnomAD
rs1331601602	p.Asp17Asn	missense variant	-	NC_000017.11:g.70175088G>A	gnomAD
rs947488726	p.Gly18Ser	missense variant	-	NC_000017.11:g.70175091G>A	TOPMed,gnomAD
RCV000644778	p.Gly18Ser	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175091G>A	ClinVar
COSM1521864	p.Gly18Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175091G>T	NCI-TCGA Cosmic
rs947488726	p.Gly18Ser	missense variant	-	NC_000017.11:g.70175091G>A	NCI-TCGA Cosmic
rs1332633060	p.Met24Thr	missense variant	-	NC_000017.11:g.70175110T>C	TOPMed
rs1441314140	p.Met24Val	missense variant	-	NC_000017.11:g.70175109A>G	TOPMed
rs1316063007	p.Ala25Pro	missense variant	-	NC_000017.11:g.70175112G>C	TOPMed
NCI-TCGA novel	p.Ala27Ser	missense variant	-	NC_000017.11:g.70175118G>T	NCI-TCGA
NCI-TCGA novel	p.Asn28Ser	missense variant	-	NC_000017.11:g.70175122A>G	NCI-TCGA
rs375727662	p.Gly33Arg	missense variant	-	NC_000017.11:g.70175136G>C	ESP,TOPMed,gnomAD
rs375727662	p.Gly33Arg	missense variant	-	NC_000017.11:g.70175136G>A	ESP,TOPMed,gnomAD
rs1476737505	p.Lys34Asn	missense variant	-	NC_000017.11:g.70175141G>C	gnomAD
rs772815957	p.Lys34Arg	missense variant	-	NC_000017.11:g.70175140A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys34Glu	missense variant	-	NC_000017.11:g.70175139A>G	NCI-TCGA
rs762818989	p.Ser35Thr	missense variant	-	NC_000017.11:g.70175143G>C	ExAC,gnomAD
rs1192608882	p.Ser35Gly	missense variant	-	NC_000017.11:g.70175142A>G	gnomAD
NCI-TCGA novel	p.Ser35Arg	missense variant	-	NC_000017.11:g.70175144T>G	NCI-TCGA
rs1367740803	p.Thr39Ile	missense variant	-	NC_000017.11:g.70175155C>T	gnomAD
RCV000795350	p.Arg40Gln	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
RCV000347359	p.Arg40Gln	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175158G>A	ClinVar
RCV000489623	p.Arg40Gln	missense variant	-	NC_000017.11:g.70175158G>A	ClinVar
RCV000473222	p.Arg40Pro	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>C	ClinVar
rs766143485	p.Arg40Pro	missense variant	-	NC_000017.11:g.70175158G>C	ExAC,TOPMed,gnomAD
rs766143485	p.Arg40Gln	missense variant	-	NC_000017.11:g.70175158G>A	ExAC,TOPMed,gnomAD
rs786205811	p.Arg40Ter	stop gained	-	NC_000017.11:g.70175157C>T	TOPMed,gnomAD
RCV000308982	p.Arg40Gln	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175158G>A	ClinVar
RCV000406881	p.Arg40Gln	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175158G>A	ClinVar
RCV000170970	p.Arg40Ter	nonsense	-	NC_000017.11:g.70175157C>T	ClinVar
rs1170369013	p.Cys43Arg	missense variant	-	NC_000017.11:g.70175166T>C	gnomAD
rs774424161	p.Cys43Tyr	missense variant	-	NC_000017.11:g.70175167G>A	ExAC,TOPMed,gnomAD
rs774424161	p.Cys43Phe	missense variant	-	NC_000017.11:g.70175167G>T	ExAC,TOPMed,gnomAD
rs1271319212	p.Arg46His	missense variant	-	NC_000017.11:g.70175176G>A	gnomAD
COSM5030540	p.Arg46Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175175C>T	NCI-TCGA Cosmic
RCV000627123	p.Gly52Val	missense variant	-	NC_000017.11:g.70175194G>T	ClinVar
rs1555603894	p.Gly52Val	missense variant	-	NC_000017.11:g.70175194G>T	-
rs1555603894	p.Gly52Val	missense variant	-	NC_000017.11:g.70175194G>T	NCI-TCGA
rs199473650	p.Cys54Phe	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt,dbSNP
VAR_065861	p.Cys54Phe	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175200G>T	UniProt
RCV000058293	p.Cys54Phe	missense variant	Familial periodic paralysis	NC_000017.11:g.70175200G>T	ClinVar
rs1277940062	p.Asn55Ile	missense variant	-	NC_000017.11:g.70175203A>T	gnomAD
rs1264595509	p.Val56Ile	missense variant	-	NC_000017.11:g.70175205G>A	TOPMed
NCI-TCGA novel	p.Val56Ala	missense variant	-	NC_000017.11:g.70175206T>C	NCI-TCGA
rs1273518954	p.Gln57Arg	missense variant	-	NC_000017.11:g.70175209A>G	gnomAD
rs1484750176	p.Asn60Ser	missense variant	-	NC_000017.11:g.70175218A>G	TOPMed
COSM6147434	p.Glu63Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000017.11:g.70175226G>T	NCI-TCGA Cosmic
COSM1303268	p.Glu63Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175227A>G	NCI-TCGA Cosmic
RCV000058295	p.Arg67Gln	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175239G>A	ClinVar
rs104894580	p.Arg67Trp	missense variant	-	NC_000017.11:g.70175238C>T	ExAC,gnomAD
rs199473368	p.Arg67Gln	missense variant	-	NC_000017.11:g.70175239G>A	NCI-TCGA,NCI-TCGA Cosmic
rs104894580	p.Arg67Trp	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt,dbSNP
VAR_017851	p.Arg67Trp	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175238C>T	UniProt
rs199473368	p.Arg67Gln	missense variant	-	NC_000017.11:g.70175239G>A	ExAC,TOPMed
rs104894580	p.Arg67Trp	missense variant	-	NC_000017.11:g.70175238C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000058294	p.Arg67Trp	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175238C>T	ClinVar
rs199473651	p.Tyr68Asp	missense variant	-	NC_000017.11:g.70175241T>G	-
RCV000058296	p.Tyr68Asp	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175241T>G	ClinVar
rs375605948	p.Ala70Thr	missense variant	-	NC_000017.11:g.70175247G>A	ESP,ExAC,TOPMed,gnomAD
rs375605948	p.Ala70Ser	missense variant	-	NC_000017.11:g.70175247G>T	ESP,ExAC,TOPMed,gnomAD
RCV000459178	p.Ala70Ser	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175247G>T	ClinVar
RCV000170973	p.Ala70Thr	missense variant	-	NC_000017.11:g.70175247G>A	ClinVar
rs375605948	p.Ala70Thr	missense variant	-	NC_000017.11:g.70175247G>A	NCI-TCGA
rs104894575	p.Asp71Val	missense variant	-	NC_000017.11:g.70175251A>T	-
rs104894575	p.Asp71Val	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt,dbSNP
VAR_017852	p.Asp71Val	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175251A>T	UniProt
rs199473369	p.Asp71Asn	missense variant	-	NC_000017.11:g.70175250G>A	-
rs199473369	p.Asp71His	missense variant	-	NC_000017.11:g.70175250G>C	-
RCV000058297	p.Asp71Asn	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175250G>A	ClinVar
RCV000058298	p.Asp71Val	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175251A>T	ClinVar
RCV000208360	p.Asp71His	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175250G>C	ClinVar
rs780636530	p.Ile72Met	missense variant	-	NC_000017.11:g.70175255C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile72Thr	missense variant	-	NC_000017.11:g.70175254T>C	NCI-TCGA
COSM5789675	p.Phe73Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175258C>A	NCI-TCGA Cosmic
rs199473652	p.Thr74Ala	missense variant	-	NC_000017.11:g.70175259A>G	-
RCV000058299	p.Thr74Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175259A>G	ClinVar
RCV000644783	p.Thr75Met	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>T	ClinVar
RCV000058300	p.Thr75Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175262A>G	ClinVar
rs104894585	p.Thr75Met	missense variant	-	NC_000017.11:g.70175263C>T	-
rs104894585	p.Thr75Arg	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt,dbSNP
VAR_065862	p.Thr75Arg	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175263C>G	UniProt
rs104894585	p.Thr75Arg	missense variant	-	NC_000017.11:g.70175263C>G	-
COSM707435	p.Thr75Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175263C>A	NCI-TCGA Cosmic
RCV000170993	p.Thr75Met	missense variant	-	NC_000017.11:g.70175263C>T	ClinVar
rs199473370	p.Thr75Ala	missense variant	-	NC_000017.11:g.70175262A>G	-
RCV000009483	p.Thr75Arg	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175263C>G	ClinVar
rs786205812	p.Cys76Gly	missense variant	-	NC_000017.11:g.70175265T>G	-
RCV000471851	p.Cys76Gly	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175265T>G	ClinVar
RCV000157272	p.Asp78Gly	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175272A>G	ClinVar
RCV000058303	p.Asp78Tyr	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175271G>T	ClinVar
rs199473371	p.Asp78Gly	missense variant	-	NC_000017.11:g.70175272A>G	-
rs199473371	p.Asp78Gly	missense variant	-	NC_000017.11:g.70175272A>G	NCI-TCGA
rs199473372	p.Asp78Tyr	missense variant	-	NC_000017.11:g.70175271G>T	-
RCV000170975	p.Ile79Thr	missense variant	-	NC_000017.11:g.70175275T>C	ClinVar
rs786205813	p.Ile79Thr	missense variant	-	NC_000017.11:g.70175275T>C	TOPMed
COSM983655	p.Arg80His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175278G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg80Cys	missense variant	-	NC_000017.11:g.70175277C>T	NCI-TCGA
RCV000678808	p.Arg82Trp	missense variant	-	NC_000017.11:g.70175283C>T	ClinVar
rs199473653	p.Arg82Gln	missense variant	-	NC_000017.11:g.70175284G>A	NCI-TCGA
rs199473373	p.Arg82Trp	missense variant	-	NC_000017.11:g.70175283C>T	NCI-TCGA
rs199473373	p.Arg82Trp	missense variant	-	NC_000017.11:g.70175283C>T	-
rs199473653	p.Arg82Gln	missense variant	-	NC_000017.11:g.70175284G>A	-
RCV000535797	p.Arg82Trp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175283C>T	ClinVar
RCV000619060	p.Arg82Gln	missense variant	-	NC_000017.11:g.70175284G>A	ClinVar
rs1415820562	p.Met84Thr	missense variant	-	NC_000017.11:g.70175290T>C	TOPMed
rs786205814	p.Val86Phe	missense variant	-	NC_000017.11:g.70175295G>T	TOPMed
RCV000170977	p.Val86Phe	missense variant	-	NC_000017.11:g.70175295G>T	ClinVar
rs748958117	p.Ile87Val	missense variant	-	NC_000017.11:g.70175298A>G	ExAC,gnomAD
rs538004651	p.Ala91Val	missense variant	-	NC_000017.11:g.70175311C>T	1000Genomes,ExAC,gnomAD
RCV000148540	p.Val93Ile	missense variant	Atrial fibrillation	NC_000017.11:g.70175316G>A	ClinVar
RCV000544361	p.Val93Ile	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175316G>A	ClinVar
RCV000023029	p.Val93Ile	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	ClinVar
rs1025972346	p.Val93Ala	missense variant	-	NC_000017.11:g.70175317T>C	TOPMed
rs147750704	p.Val93Ile	missense variant	Atrial fibrillation, familial, 9 (atfb9)	NC_000017.11:g.70175316G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147750704	p.Val93Ile	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt,dbSNP
VAR_065863	p.Val93Ile	missense variant	Atrial fibrillation, familial, 9 (ATFB9)	NC_000017.11:g.70175316G>A	UniProt
rs147750704	p.Val93Ile	missense variant	-	NC_000017.11:g.70175316G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1256902994	p.Ser95Thr	missense variant	-	NC_000017.11:g.70175322T>A	TOPMed
VAR_017853	p.Ser95_Phe98del	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
NCI-TCGA novel	p.Leu97Val	missense variant	-	NC_000017.11:g.70175328C>G	NCI-TCGA
rs79650811	p.Phe98Ile	missense variant	-	NC_000017.11:g.70175331T>A	ExAC,gnomAD
rs79650811	p.Phe98Val	missense variant	-	NC_000017.11:g.70175331T>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe99LeuPheSerTerUnk	frameshift	-	NC_000017.11:g.70175331T>-	NCI-TCGA
rs199473374	p.Cys101Arg	missense variant	-	NC_000017.11:g.70175340T>C	-
rs750630010	p.Cys101Phe	missense variant	-	NC_000017.11:g.70175341G>T	ExAC,TOPMed,gnomAD
RCV000522222	p.Cys101Phe	missense variant	-	NC_000017.11:g.70175341G>T	ClinVar
RCV000058308	p.Cys101Arg	missense variant	Ventricular tachycardia	NC_000017.11:g.70175340T>C	ClinVar
rs766678770	p.Val102Met	missense variant	-	NC_000017.11:g.70175343G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp104Ter	stop gained	-	NC_000017.11:g.70175350G>A	NCI-TCGA
rs751948464	p.Leu105Met	missense variant	-	NC_000017.11:g.70175352T>A	ExAC,gnomAD
rs1239684338	p.Ile106Thr	missense variant	-	NC_000017.11:g.70175356T>C	gnomAD
rs371331394	p.Leu108Val	missense variant	-	NC_000017.11:g.70175361C>G	NCI-TCGA Cosmic
rs371331394	p.Leu108Val	missense variant	-	NC_000017.11:g.70175361C>G	ESP,TOPMed,gnomAD
rs1207805290	p.Leu109Phe	missense variant	-	NC_000017.11:g.70175364C>T	gnomAD
RCV000685772	p.Leu109Pro	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175365T>C	ClinVar
rs781674038	p.His110Arg	missense variant	-	NC_000017.11:g.70175368A>G	ExAC,gnomAD
rs786205815	p.His110Tyr	missense variant	-	NC_000017.11:g.70175367C>T	-
RCV000170979	p.His110Tyr	missense variant	-	NC_000017.11:g.70175367C>T	ClinVar
NCI-TCGA novel	p.Asp114Tyr	missense variant	-	NC_000017.11:g.70175379G>T	NCI-TCGA
NCI-TCGA novel	p.Asp114Asn	missense variant	-	NC_000017.11:g.70175379G>A	NCI-TCGA
RCV000402714	p.Ala115Val	missense variant	Familial atrial fibrillation	NC_000017.11:g.70175383C>T	ClinVar
RCV000369248	p.Ala115Val	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175383C>T	ClinVar
rs886053323	p.Ala115Val	missense variant	-	NC_000017.11:g.70175383C>T	-
rs886053323	p.Ala115Val	missense variant	-	NC_000017.11:g.70175383C>T	NCI-TCGA
RCV000312265	p.Ala115Val	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175383C>T	ClinVar
rs538725136	p.Glu118Asp	missense variant	-	NC_000017.11:g.70175393G>C	1000Genomes,ExAC,gnomAD
rs375646186	p.Lys120Thr	missense variant	-	NC_000017.11:g.70175398A>C	ESP,ExAC,TOPMed,gnomAD
RCV000497313	p.Lys120Thr	missense variant	-	NC_000017.11:g.70175398A>C	ClinVar
rs1555603931	p.Cys122Tyr	missense variant	-	NC_000017.11:g.70175404G>A	-
RCV000618249	p.Cys122Tyr	missense variant	-	NC_000017.11:g.70175404G>A	ClinVar
RCV000058309	p.Val123Gly	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175407T>G	ClinVar
rs199473375	p.Val123Gly	missense variant	-	NC_000017.11:g.70175407T>G	-
rs1383215658	p.Phe129Ser	missense variant	-	NC_000017.11:g.70175425T>C	gnomAD
NCI-TCGA novel	p.Phe129SerPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.70175423C>-	NCI-TCGA
NCI-TCGA novel	p.Phe129Ile	missense variant	-	NC_000017.11:g.70175424T>A	NCI-TCGA
rs1555603936	p.Thr130Ala	missense variant	-	NC_000017.11:g.70175427A>G	-
rs151168735	p.Thr130Met	missense variant	-	NC_000017.11:g.70175428C>T	ESP,ExAC,TOPMed,gnomAD
RCV000515675	p.Thr130Ala	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175427A>G	ClinVar
NCI-TCGA novel	p.Thr130Lys	missense variant	-	NC_000017.11:g.70175428C>A	NCI-TCGA
COSM1479927	p.Ala131Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175430G>A	NCI-TCGA Cosmic
rs1161792828	p.Ala132Gly	missense variant	-	NC_000017.11:g.70175434C>G	gnomAD
rs1390704358	p.Leu134Ile	missense variant	-	NC_000017.11:g.70175439C>A	gnomAD
RCV000206325	p.Ser136PhePhe	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175446_70175448delinsTTT	ClinVar
rs199473376	p.Ser136Phe	missense variant	-	NC_000017.11:g.70175446C>T	-
rs864622292	p.SerIle136PhePhe	missense variant	-	NC_000017.11:g.70175446_70175448delinsTTT	-
RCV000058310	p.Ser136Phe	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175446C>T	ClinVar
RCV000545299	p.Ile137Asn	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175449T>A	ClinVar
rs772055408	p.Ile137Thr	missense variant	-	NC_000017.11:g.70175449T>C	ExAC,gnomAD
rs772055408	p.Ile137Asn	missense variant	-	NC_000017.11:g.70175449T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu138Lys	missense variant	-	NC_000017.11:g.70175451G>A	NCI-TCGA
rs1060500052	p.Thr139Ile	missense variant	-	NC_000017.11:g.70175455C>T	-
RCV000462204	p.Thr139Ile	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175455C>T	ClinVar
rs199473378	p.Gly144Ser	missense variant	-	NC_000017.11:g.70175469G>A	-
RCV000644780	p.Gly144Asp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175470G>A	ClinVar
rs199473377	p.Gly144Asp	missense variant	-	NC_000017.11:g.70175470G>A	-
rs199473377	p.Gly144Ala	missense variant	-	NC_000017.11:g.70175470G>C	-
RCV000058311	p.Gly144Ser	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175469G>A	ClinVar
RCV000058313	p.Gly144Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175470G>C	ClinVar
RCV000058314	p.Gly146Ser	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175475G>A	ClinVar
RCV000058315	p.Gly146Asp	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>A	ClinVar
RCV000058316	p.Gly146Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175476G>C	ClinVar
rs199473654	p.Gly146Ser	missense variant	-	NC_000017.11:g.70175475G>A	-
rs199473379	p.Gly146Asp	missense variant	-	NC_000017.11:g.70175476G>A	-
rs199473379	p.Gly146Ala	missense variant	-	NC_000017.11:g.70175476G>C	-
COSM6147432	p.Arg148Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175482G>T	NCI-TCGA Cosmic
rs766588803	p.Thr151Met	missense variant	-	NC_000017.11:g.70175491C>T	ExAC,gnomAD
RCV000058317	p.Cys154Phe	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175500G>T	ClinVar
rs199473380	p.Cys154Phe	missense variant	-	NC_000017.11:g.70175500G>T	NCI-TCGA
rs199473380	p.Cys154Phe	missense variant	-	NC_000017.11:g.70175500G>T	-
rs767934529	p.Ile156Val	missense variant	-	NC_000017.11:g.70175505A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala157Asp	missense variant	-	NC_000017.11:g.70175509C>A	NCI-TCGA
NCI-TCGA novel	p.Val158Ala	missense variant	-	NC_000017.11:g.70175512T>C	NCI-TCGA
rs1236228202	p.Phe159Ser	missense variant	-	NC_000017.11:g.70175515T>C	TOPMed,gnomAD
rs753215455	p.Phe159Leu	missense variant	-	NC_000017.11:g.70175516C>A	ExAC,gnomAD
rs1183624780	p.Met160Leu	missense variant	-	NC_000017.11:g.70175517A>T	TOPMed,gnomAD
rs1183624780	p.Met160Val	missense variant	-	NC_000017.11:g.70175517A>G	TOPMed,gnomAD
rs1257883069	p.Ile166Val	missense variant	-	NC_000017.11:g.70175535A>G	gnomAD
rs140147979	p.Val167Met	missense variant	-	NC_000017.11:g.70175538G>A	ESP,ExAC,TOPMed,gnomAD
rs140147979	p.Val167Met	missense variant	-	NC_000017.11:g.70175538G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1555603943	p.Ile170Met	missense variant	-	NC_000017.11:g.70175549C>G	-
RCV000617655	p.Ile170Met	missense variant	-	NC_000017.11:g.70175549C>G	ClinVar
rs150326473	p.Ile171Val	missense variant	-	NC_000017.11:g.70175550A>G	NCI-TCGA,NCI-TCGA Cosmic
rs150326473	p.Ile171Val	missense variant	-	NC_000017.11:g.70175550A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM437252	p.Ile171Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175552C>G	NCI-TCGA Cosmic
rs104894584	p.Asp172Asn	missense variant	Short qt syndrome 3 (sqt3)	NC_000017.11:g.70175553G>A	-
rs104894584	p.Asp172Asn	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt,dbSNP
VAR_023842	p.Asp172Asn	missense variant	Short QT syndrome 3 (SQT3)	NC_000017.11:g.70175553G>A	UniProt
RCV000058318	p.Asp172Asn	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70175553G>A	ClinVar
rs778699148	p.Ala173Thr	missense variant	-	NC_000017.11:g.70175556G>A	ExAC
rs761209037	p.Ile175Leu	missense variant	-	NC_000017.11:g.70175562A>C	gnomAD
COSM707433	p.Ile175Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175563T>C	NCI-TCGA Cosmic
rs1555603949	p.Gly177Ser	missense variant	-	NC_000017.11:g.70175568G>A	-
RCV000520397	p.Gly177Ser	missense variant	-	NC_000017.11:g.70175568G>A	ClinVar
NCI-TCGA novel	p.Gly177Cys	missense variant	-	NC_000017.11:g.70175568G>T	NCI-TCGA
rs771965504	p.Ala178Thr	missense variant	-	NC_000017.11:g.70175571G>A	ExAC,TOPMed,gnomAD
rs771965504	p.Ala178Ser	missense variant	-	NC_000017.11:g.70175571G>T	ExAC,TOPMed,gnomAD
rs771965504	p.Ala178Thr	missense variant	-	NC_000017.11:g.70175571G>A	NCI-TCGA
rs771965504	p.Ala178Ser	missense variant	-	NC_000017.11:g.70175571G>T	NCI-TCGA,NCI-TCGA Cosmic
rs779764704	p.Val179Ile	missense variant	-	NC_000017.11:g.70175574G>A	ExAC,gnomAD
COSM6147431	p.Met180Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175579G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met183GluPheSerTerUnkUnk	frameshift	-	NC_000017.11:g.70175580_70175593GCCAAGATGGCAAA>-	NCI-TCGA
NCI-TCGA novel	p.Lys185Gln	missense variant	-	NC_000017.11:g.70175592A>C	NCI-TCGA
rs104894581	p.Pro186Leu	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt,dbSNP
VAR_017854	p.Pro186Leu	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175596C>T	UniProt
rs104894581	p.Pro186Leu	missense variant	-	NC_000017.11:g.70175596C>T	-
RCV000058319	p.Pro186Leu	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175596C>T	ClinVar
RCV000493398	p.Arg189Gly	missense variant	-	NC_000017.11:g.70175604A>G	ClinVar
RCV000170980	p.Arg189Lys	missense variant	-	NC_000017.11:g.70175605G>A	ClinVar
RCV000058320	p.Arg189Ile	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175605G>T	ClinVar
rs199473381	p.Arg189Ile	missense variant	-	NC_000017.11:g.70175605G>T	-
rs1131691475	p.Arg189Gly	missense variant	-	NC_000017.11:g.70175604A>G	-
rs199473381	p.Arg189Lys	missense variant	-	NC_000017.11:g.70175605G>A	-
NCI-TCGA novel	p.Asn190Lys	missense variant	-	NC_000017.11:g.70175609C>A	NCI-TCGA
NCI-TCGA novel	p.Glu191Lys	missense variant	-	NC_000017.11:g.70175610G>A	NCI-TCGA
RCV000058321	p.Thr192Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175613A>G	ClinVar
RCV000058322	p.Thr192Ile	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175614C>T	ClinVar
rs199473655	p.Thr192Ile	missense variant	-	NC_000017.11:g.70175614C>T	-
rs199473382	p.Thr192Ala	missense variant	-	NC_000017.11:g.70175613A>G	-
NCI-TCGA novel	p.Thr192Asn	missense variant	-	NC_000017.11:g.70175614C>A	NCI-TCGA
RCV000518683	p.Leu193His	missense variant	-	NC_000017.11:g.70175617T>A	ClinVar
rs1555603955	p.Leu193His	missense variant	-	NC_000017.11:g.70175617T>A	-
RCV000807719	p.Leu193His	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175617T>A	ClinVar
COSM5937721	p.Ala199Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175635C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala199Ser	missense variant	-	NC_000017.11:g.70175634G>T	NCI-TCGA
rs759793133	p.Ala202Thr	missense variant	-	NC_000017.11:g.70175643G>A	ExAC,gnomAD
rs1447067995	p.Met203Thr	missense variant	-	NC_000017.11:g.70175647T>C	TOPMed
rs1378737445	p.Asp205Gly	missense variant	-	NC_000017.11:g.70175653A>G	TOPMed
rs767844416	p.Asp205Glu	missense variant	-	NC_000017.11:g.70175654C>A	ExAC,TOPMed,gnomAD
COSM707431	p.Asp205Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175654C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp205Tyr	missense variant	-	NC_000017.11:g.70175652G>T	NCI-TCGA
RCV000724926	p.Gly206Ser	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
RCV000340562	p.Gly206Ser	missense variant	-	NC_000017.11:g.70175655G>A	ClinVar
rs370571312	p.Gly206Asp	missense variant	-	NC_000017.11:g.70175656G>A	ESP,TOPMed
rs141035459	p.Gly206Ser	missense variant	-	NC_000017.11:g.70175655G>A	ESP,ExAC,TOPMed,gnomAD
rs141035459	p.Gly206Arg	missense variant	-	NC_000017.11:g.70175655G>C	ESP,ExAC,TOPMed,gnomAD
COSM983659	p.Gly206Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175656G>T	NCI-TCGA Cosmic
RCV000644781	p.Gly206Ser	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175655G>A	ClinVar
rs1277440117	p.Arg213Gln	missense variant	-	NC_000017.11:g.70175677G>A	TOPMed,gnomAD
rs764523123	p.Arg213Ter	stop gained	-	NC_000017.11:g.70175676C>T	ExAC,gnomAD
COSM6081592	p.Val214Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175679G>T	NCI-TCGA Cosmic
RCV000458761	p.Gly215Asp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175683G>A	ClinVar
rs199473383	p.Gly215Asp	missense variant	-	NC_000017.11:g.70175683G>A	-
RCV000009481	p.Asn216His	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175685A>C	ClinVar
rs104894583	p.Asn216His	missense variant	-	NC_000017.11:g.70175685A>C	-
rs104894583	p.Asn216His	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt,dbSNP
VAR_017855	p.Asn216His	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175685A>C	UniProt
rs1218827971	p.Leu217Ile	missense variant	-	NC_000017.11:g.70175688C>A	-
rs199473656	p.Leu217Pro	missense variant	-	NC_000017.11:g.70175689T>C	-
COSM6147429	p.Leu217Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175688C>T	NCI-TCGA Cosmic
rs1218827971	p.Leu217Ile	missense variant	-	NC_000017.11:g.70175688C>A	NCI-TCGA
RCV000058325	p.Leu217Pro	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175689T>C	ClinVar
rs199473384	p.Arg218Gln	missense variant	-	NC_000017.11:g.70175692G>A	NCI-TCGA,NCI-TCGA Cosmic
rs199473384	p.Arg218Leu	missense variant	-	NC_000017.11:g.70175692G>T	-
rs199473384	p.Arg218Pro	missense variant	-	NC_000017.11:g.70175692G>C	-
rs199473384	p.Arg218Gln	missense variant	-	NC_000017.11:g.70175692G>A	-
rs104894578	p.Arg218Trp	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt,dbSNP
VAR_017856	p.Arg218Trp	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175691C>T	UniProt
rs104894578	p.Arg218Trp	missense variant	-	NC_000017.11:g.70175691C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000170983	p.Arg218Leu	missense variant	-	NC_000017.11:g.70175692G>T	ClinVar
RCV000009474	p.Arg218Trp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
RCV000170982	p.Arg218Trp	missense variant	-	NC_000017.11:g.70175691C>T	ClinVar
RCV000684775	p.Arg218Trp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175691C>T	ClinVar
RCV000470921	p.Arg218Leu	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175692G>T	ClinVar
RCV000058327	p.Arg218Gln	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175692G>A	ClinVar
RCV000493695	p.Arg218Pro	missense variant	-	NC_000017.11:g.70175692G>C	ClinVar
COSM4580032	p.Ser220Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175698G>A	NCI-TCGA Cosmic
RCV000657962	p.Leu222Ser	missense variant	-	NC_000017.11:g.70175704T>C	ClinVar
rs1555603968	p.Leu222Ser	missense variant	-	NC_000017.11:g.70175704T>C	-
rs1555603969	p.Val223Gly	missense variant	-	NC_000017.11:g.70175707T>G	-
RCV000547269	p.Val223Gly	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175707T>G	ClinVar
rs199473657	p.Val227Phe	missense variant	-	NC_000017.11:g.70175718G>T	-
RCV000058328	p.Val227Phe	missense variant	Ventricular tachycardia	NC_000017.11:g.70175718G>T	ClinVar
rs1234083049	p.Arg228Gln	missense variant	-	NC_000017.11:g.70175722G>A	-
rs1060500053	p.Arg228Ter	stop gained	-	NC_000017.11:g.70175721C>T	gnomAD
rs1234083049	p.Arg228Gln	missense variant	-	NC_000017.11:g.70175722G>A	NCI-TCGA
RCV000457313	p.Arg228Ter	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175721C>T	ClinVar
rs1401657394	p.Ala229Ser	missense variant	-	NC_000017.11:g.70175724G>T	gnomAD
NCI-TCGA novel	p.Ala229Glu	missense variant	-	NC_000017.11:g.70175725C>A	NCI-TCGA
rs779856198	p.Leu232Phe	missense variant	-	NC_000017.11:g.70175733C>T	ExAC,gnomAD
rs1467895883	p.Arg235Gly	missense variant	-	NC_000017.11:g.70175742A>G	TOPMed
rs746781024	p.Thr237Ile	missense variant	-	NC_000017.11:g.70175749C>T	ExAC,TOPMed,gnomAD
rs1555603974	p.Glu239Ter	stop gained	-	NC_000017.11:g.70175754G>T	-
rs943311933	p.Glu239Asp	missense variant	-	NC_000017.11:g.70175756A>T	TOPMed
RCV000550694	p.Glu239Ter	nonsense	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175754G>T	ClinVar
rs943311933	p.Glu239Asp	missense variant	-	NC_000017.11:g.70175756A>T	NCI-TCGA
COSM707430	p.Gly240Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175757G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu241Lys	missense variant	-	NC_000017.11:g.70175760G>A	NCI-TCGA
COSM3890283	p.Pro244Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70175770C>T	NCI-TCGA Cosmic
rs748150144	p.Asp246Tyr	missense variant	-	NC_000017.11:g.70175775G>T	ExAC,gnomAD
rs1240310788	p.Gln247Glu	missense variant	-	NC_000017.11:g.70175778C>G	TOPMed
rs1489055848	p.Ile248Arg	missense variant	-	NC_000017.11:g.70175782T>G	TOPMed,gnomAD
rs770964805	p.Ile248Met	missense variant	-	NC_000017.11:g.70175783A>G	ExAC,gnomAD
rs1489055848	p.Ile248Thr	missense variant	-	NC_000017.11:g.70175782T>C	TOPMed,gnomAD
RCV000523981	p.Asn251Ser	missense variant	-	NC_000017.11:g.70175791A>G	ClinVar
rs1261477163	p.Asn251Ser	missense variant	-	NC_000017.11:g.70175791A>G	gnomAD
rs1367370027	p.Val252Ala	missense variant	-	NC_000017.11:g.70175794T>C	TOPMed
rs1488131137	p.Asp255Asn	missense variant	-	NC_000017.11:g.70175802G>A	gnomAD
rs587781007	p.Ile258Thr	missense variant	-	NC_000017.11:g.70175812T>C	-
rs1057524125	p.Ile258Met	missense variant	-	NC_000017.11:g.70175813C>G	TOPMed,gnomAD
RCV000126416	p.Ile258Thr	missense variant	-	NC_000017.11:g.70175812T>C	ClinVar
rs1037493754	p.Asp259Asn	missense variant	-	NC_000017.11:g.70175814G>A	NCI-TCGA Cosmic
rs1037493754	p.Asp259Asn	missense variant	-	NC_000017.11:g.70175814G>A	TOPMed,gnomAD
rs199473385	p.Arg260His	missense variant	-	NC_000017.11:g.70175818G>A	gnomAD
rs199473385	p.Arg260Pro	missense variant	-	NC_000017.11:g.70175818G>C	gnomAD
NCI-TCGA novel	p.Arg260Gly	missense variant	-	NC_000017.11:g.70175817C>G	NCI-TCGA
RCV000058329	p.Arg260Pro	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175818G>C	ClinVar
rs774461588	p.Ile261Val	missense variant	-	NC_000017.11:g.70175820A>G	ExAC,TOPMed,gnomAD
rs746052198	p.Ile267Val	missense variant	-	NC_000017.11:g.70175838A>G	ExAC,gnomAD
rs886042211	p.Ile269Lys	missense variant	-	NC_000017.11:g.70175845T>A	-
rs930806279	p.Ile269Val	missense variant	-	NC_000017.11:g.70175844A>G	gnomAD
RCV000364962	p.Ile269Lys	missense variant	-	NC_000017.11:g.70175845T>A	ClinVar
rs1359665656	p.Val270Ala	missense variant	-	NC_000017.11:g.70175848T>C	gnomAD
RCV000170985	p.Asp274Val	missense variant	-	NC_000017.11:g.70175860A>T	ClinVar
rs786205816	p.Asp274Val	missense variant	-	NC_000017.11:g.70175860A>T	-
rs1201835791	p.Asp276Gly	missense variant	-	NC_000017.11:g.70175866A>G	gnomAD
NCI-TCGA novel	p.Ser277Asn	missense variant	-	NC_000017.11:g.70175869G>A	NCI-TCGA
NCI-TCGA novel	p.Pro278Ser	missense variant	-	NC_000017.11:g.70175871C>T	NCI-TCGA
NCI-TCGA novel	p.Pro278Leu	missense variant	-	NC_000017.11:g.70175872C>T	NCI-TCGA
rs772189737	p.Leu279Phe	missense variant	-	NC_000017.11:g.70175876A>C	ExAC,gnomAD
rs527277177	p.Asp281Ala	missense variant	-	NC_000017.11:g.70175881A>C	1000Genomes
rs758092571	p.Leu282Trp	missense variant	-	NC_000017.11:g.70175884T>G	ExAC,TOPMed,gnomAD
RCV000559682	p.Leu282Trp	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175884T>G	ClinVar
rs764589989	p.Ser283Asn	missense variant	-	NC_000017.11:g.70175887G>A	ExAC,gnomAD
RCV000598639	p.Gln285Ter	nonsense	-	NC_000017.11:g.70175892C>T	ClinVar
rs776976697	p.Gln285Ter	stop gained	-	NC_000017.11:g.70175892C>T	ExAC,gnomAD
rs776976697	p.Gln285Glu	missense variant	-	NC_000017.11:g.70175892C>G	ExAC,gnomAD
rs142750807	p.Asp286Glu	missense variant	-	NC_000017.11:g.70175897C>G	ESP,ExAC,TOPMed,gnomAD
rs762462064	p.Asp286Gly	missense variant	-	NC_000017.11:g.70175896A>G	ExAC,gnomAD
rs758054840	p.Ile287Leu	missense variant	-	NC_000017.11:g.70175898A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile287Thr	missense variant	-	NC_000017.11:g.70175899T>C	NCI-TCGA
rs895505794	p.Ala290Thr	missense variant	-	NC_000017.11:g.70175907G>A	gnomAD
rs895505794	p.Ala290Thr	missense variant	-	NC_000017.11:g.70175907G>A	NCI-TCGA Cosmic
rs895505794	p.Ala290Ser	missense variant	-	NC_000017.11:g.70175907G>T	gnomAD
RCV000171667	p.Val295Ala	missense variant	-	NC_000017.11:g.70175923T>C	ClinVar
rs201162707	p.Val295Gly	missense variant	-	NC_000017.11:g.70175923T>G	ExAC,gnomAD
rs201162707	p.Val295Ala	missense variant	-	NC_000017.11:g.70175923T>C	ExAC,gnomAD
rs201162707	p.Val295Ala	missense variant	-	NC_000017.11:g.70175923T>C	NCI-TCGA
NCI-TCGA novel	p.Val295Met	missense variant	-	NC_000017.11:g.70175922G>A	NCI-TCGA
rs786205817	p.Glu299Val	missense variant	-	NC_000017.11:g.70175935A>T	-
RCV000170986	p.Glu299Val	missense variant	-	NC_000017.11:g.70175935A>T	ClinVar
RCV000058332	p.Gly300Val	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>T	ClinVar
RCV000058331	p.Gly300Ala	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>C	ClinVar
rs104894579	p.Gly300Val	missense variant	-	NC_000017.11:g.70175938G>T	-
rs104894579	p.Gly300Val	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt,dbSNP
VAR_017857	p.Gly300Val	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175938G>T	UniProt
rs104894579	p.Gly300Asp	missense variant	-	NC_000017.11:g.70175938G>A	-
rs104894579	p.Gly300Ala	missense variant	-	NC_000017.11:g.70175938G>C	-
RCV000058330	p.Gly300Asp	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175938G>A	ClinVar
rs876661184	p.Met301Arg	missense variant	-	NC_000017.11:g.70175941T>G	-
rs786205818	p.Met301Val	missense variant	-	NC_000017.11:g.70175940A>G	-
rs786205818	p.Met301Leu	missense variant	-	NC_000017.11:g.70175940A>C	-
RCV000435544	p.Met301Leu	missense variant	-	NC_000017.11:g.70175940A>C	ClinVar
RCV000221740	p.Met301Arg	missense variant	-	NC_000017.11:g.70175941T>G	ClinVar
RCV000702725	p.Met301Val	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175940A>G	ClinVar
rs104894582	p.Val302Met	missense variant	-	NC_000017.11:g.70175943G>A	-
rs104894582	p.Val302Met	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt,dbSNP
VAR_017858	p.Val302Met	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175943G>A	UniProt
RCV000009480	p.Val302Met	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175943G>A	ClinVar
NCI-TCGA novel	p.Val302Leu	missense variant	-	NC_000017.11:g.70175943G>T	NCI-TCGA
RCV000058334	p.Glu303Lys	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175946G>A	ClinVar
rs199473386	p.Glu303Lys	missense variant	-	NC_000017.11:g.70175946G>A	ExAC,gnomAD
rs199473387	p.Thr305Pro	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt,dbSNP
VAR_065864	p.Thr305Pro	missense variant	Long QT syndrome 7 (LQT7)	NC_000017.11:g.70175952A>C	UniProt
rs199473387	p.Thr305Pro	missense variant	-	NC_000017.11:g.70175952A>C	-
RCV000058335	p.Thr305Pro	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175952A>C	ClinVar
RCV000678809	p.Thr305Ala	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175952A>G	ClinVar
rs1453511355	p.Ala306Thr	missense variant	-	NC_000017.11:g.70175955G>A	TOPMed
rs199473658	p.Met307Ile	missense variant	-	NC_000017.11:g.70175960G>A	-
RCV000058337	p.Met307Ile	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175960G>A	ClinVar
rs1555603994	p.Met307Val	missense variant	-	NC_000017.11:g.70175958A>G	-
RCV000644782	p.Met307Val	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175958A>G	ClinVar
rs748053853	p.Thr308Met	missense variant	-	NC_000017.11:g.70175962C>T	ExAC,gnomAD
rs748053853	p.Thr308Met	missense variant	-	NC_000017.11:g.70175962C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199473388	p.Thr309Ile	missense variant	-	NC_000017.11:g.70175965C>T	-
RCV000058338	p.Thr309Ile	missense variant	Congenital long QT syndrome	NC_000017.11:g.70175965C>T	ClinVar
NCI-TCGA novel	p.Cys311SerPheSerTerUnk	frameshift	-	NC_000017.11:g.70175971G>-	NCI-TCGA
rs199473389	p.Arg312Cys	missense variant	-	NC_000017.11:g.70175973C>T	gnomAD
rs786205820	p.Arg312His	missense variant	-	NC_000017.11:g.70175974G>A	-
rs786205820	p.Arg312His	missense variant	-	NC_000017.11:g.70175974G>A	NCI-TCGA
RCV000644779	p.Arg312His	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175974G>A	ClinVar
RCV000443262	p.Arg312Cys	missense variant	-	NC_000017.11:g.70175973C>T	ClinVar
rs1241493359	p.Ser313Asn	missense variant	-	NC_000017.11:g.70175977G>A	TOPMed
VAR_017859	p.Ser314_Tyr315del	inframe_deletion	Long QT syndrome 7 (LQT7) [MIM:170390]	-	UniProt
rs778898178	p.Ala317Thr	missense variant	-	NC_000017.11:g.70175988G>A	ExAC,gnomAD
RCV000148541	p.Asn318Ser	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70175992A>G	ClinVar
rs367560052	p.Asn318Ser	missense variant	-	NC_000017.11:g.70175992A>G	ESP,ExAC,TOPMed,gnomAD
rs1489001971	p.Leu321Val	missense variant	-	NC_000017.11:g.70176000C>G	TOPMed
rs797044842	p.Trp322Cys	missense variant	-	NC_000017.11:g.70176005G>C	-
RCV000193904	p.Trp322Cys	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176005G>C	ClinVar
RCV000170995	p.Arg325Cys	missense variant	-	NC_000017.11:g.70176012C>T	ClinVar
RCV000496264	p.Arg325Cys	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
RCV000816436	p.Arg325Cys	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176012C>T	ClinVar
rs1555604000	p.Arg325His	missense variant	-	NC_000017.11:g.70176013G>A	-
rs1555604000	p.Arg325His	missense variant	-	NC_000017.11:g.70176013G>A	NCI-TCGA Cosmic
rs202067116	p.Arg325Cys	missense variant	-	NC_000017.11:g.70176012C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000498871	p.Arg325His	missense variant	-	NC_000017.11:g.70176013G>A	ClinVar
RCV000208475	p.Arg325Cys	missense variant	Ventricular fibrillation	NC_000017.11:g.70176012C>T	ClinVar
rs786205819	p.Tyr326Asn	missense variant	-	NC_000017.11:g.70176015T>A	-
RCV000170989	p.Tyr326Asn	missense variant	-	NC_000017.11:g.70176015T>A	ClinVar
NCI-TCGA novel	p.Tyr326Ter	stop gained	-	NC_000017.11:g.70176017T>A	NCI-TCGA
rs1378491441	p.Glu327Lys	missense variant	-	NC_000017.11:g.70176018G>A	NCI-TCGA Cosmic
rs1378491441	p.Glu327Lys	missense variant	-	NC_000017.11:g.70176018G>A	gnomAD
NCI-TCGA novel	p.Pro328Ala	missense variant	-	NC_000017.11:g.70176021C>G	NCI-TCGA
rs747299642	p.Val329Leu	missense variant	-	NC_000017.11:g.70176024G>C	ExAC,gnomAD
rs768884407	p.Leu330Phe	missense variant	-	NC_000017.11:g.70176027C>T	ExAC,TOPMed
NCI-TCGA novel	p.Glu332Lys	missense variant	-	NC_000017.11:g.70176033G>A	NCI-TCGA
NCI-TCGA novel	p.Glu333Ter	stop gained	-	NC_000017.11:g.70176036G>T	NCI-TCGA
NCI-TCGA novel	p.Glu333Asp	missense variant	-	NC_000017.11:g.70176038G>T	NCI-TCGA
rs1356573793	p.Lys334Thr	missense variant	-	NC_000017.11:g.70176040A>C	gnomAD
NCI-TCGA novel	p.His335Gln	missense variant	-	NC_000017.11:g.70176044C>A	NCI-TCGA
COSM1385611	p.Tyr341Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176060T>A	NCI-TCGA Cosmic
rs1320510274	p.Ser342Cys	missense variant	-	NC_000017.11:g.70176064C>G	TOPMed,gnomAD
rs1320510274	p.Ser342Phe	missense variant	-	NC_000017.11:g.70176064C>T	TOPMed,gnomAD
rs1320510274	p.Ser342Phe	missense variant	-	NC_000017.11:g.70176064C>T	NCI-TCGA
rs764729208	p.Tyr348Ter	stop gained	-	NC_000017.11:g.70176082dup	ExAC,gnomAD
RCV000170990	p.Glu349Lys	missense variant	-	NC_000017.11:g.70176084G>A	ClinVar
rs375330016	p.Glu349Lys	missense variant	-	NC_000017.11:g.70176084G>A	ESP,ExAC,TOPMed,gnomAD
RCV000689013	p.Glu349Lys	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176084G>A	ClinVar
rs199473659	p.Pro351Ser	missense variant	-	NC_000017.11:g.70176090C>T	-
RCV000058291	p.Pro351Ser	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176090C>T	ClinVar
rs1183452643	p.Thr353Ile	missense variant	-	NC_000017.11:g.70176097C>T	gnomAD
rs765979891	p.Thr353Ala	missense variant	-	NC_000017.11:g.70176096A>G	ExAC
rs1411366891	p.Leu355Phe	missense variant	-	NC_000017.11:g.70176102C>T	gnomAD
rs368406938	p.Cys356Phe	missense variant	-	NC_000017.11:g.70176106G>T	ESP,gnomAD
COSM983663	p.Asp360Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176117G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp360Tyr	missense variant	-	NC_000017.11:g.70176117G>T	NCI-TCGA
rs1340759524	p.Ala362Gly	missense variant	-	NC_000017.11:g.70176124C>G	gnomAD
rs752494731	p.Ala362Thr	missense variant	-	NC_000017.11:g.70176123G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu363Lys	missense variant	-	NC_000017.11:g.70176126G>A	NCI-TCGA
RCV000786146	p.Lys364Arg	missense variant	-	NC_000017.11:g.70176130A>G	ClinVar
rs755990211	p.Lys364Asn	missense variant	-	NC_000017.11:g.70176131G>T	ExAC,TOPMed,gnomAD
rs1060500054	p.Lys364Arg	missense variant	-	NC_000017.11:g.70176130A>G	-
RCV000464347	p.Lys364Arg	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176130A>G	ClinVar
rs777674628	p.Lys365Gln	missense variant	-	NC_000017.11:g.70176132A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile367Val	missense variant	-	NC_000017.11:g.70176138A>G	NCI-TCGA
RCV000689975	p.Leu368Ter	frameshift	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176141del	ClinVar
NCI-TCGA novel	p.Leu368Pro	missense variant	-	NC_000017.11:g.70176142T>C	NCI-TCGA
rs758380748	p.Asn370Lys	missense variant	-	NC_000017.11:g.70176149T>G	ExAC
rs780233256	p.Ala371Glu	missense variant	-	NC_000017.11:g.70176151C>A	ExAC,gnomAD
RCV000539970	p.Ala371Glu	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176151C>A	ClinVar
rs1279418065	p.Asn372Ser	missense variant	-	NC_000017.11:g.70176154A>G	gnomAD
NCI-TCGA novel	p.Phe374Ser	missense variant	-	NC_000017.11:g.70176160T>C	NCI-TCGA
rs1320580224	p.Tyr376Cys	missense variant	-	NC_000017.11:g.70176166A>G	gnomAD
rs1443012108	p.Glu387Lys	missense variant	-	NC_000017.11:g.70176198G>A	NCI-TCGA
rs1443012108	p.Glu387Lys	missense variant	-	NC_000017.11:g.70176198G>A	gnomAD
rs781633153	p.Asp389Gly	missense variant	-	NC_000017.11:g.70176205A>G	ExAC,gnomAD
rs140053197	p.Asp389Asn	missense variant	-	NC_000017.11:g.70176204G>A	ESP,ExAC,TOPMed,gnomAD
rs140053197	p.Asp389His	missense variant	-	NC_000017.11:g.70176204G>C	ESP,ExAC,TOPMed,gnomAD
rs748535146	p.Ser390Ile	missense variant	-	NC_000017.11:g.70176208G>T	ExAC,gnomAD
COSM6147428	p.Ser390Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176207A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser390Asn	missense variant	-	NC_000017.11:g.70176208G>A	NCI-TCGA
rs1476792410	p.Val394Ala	missense variant	-	NC_000017.11:g.70176220T>C	gnomAD
RCV000685930	p.Ser397Asn	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176229G>A	ClinVar
rs1282460632	p.Ser399Gly	missense variant	-	NC_000017.11:g.70176234A>G	gnomAD
RCV000170991	p.Thr400Met	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
RCV000148542	p.Thr400Met	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176238C>T	ClinVar
rs144022753	p.Thr400Met	missense variant	-	NC_000017.11:g.70176238C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1402297652	p.Thr400Ala	missense variant	-	NC_000017.11:g.70176237A>G	gnomAD
rs144022753	p.Thr400Arg	missense variant	-	NC_000017.11:g.70176238C>G	ESP,ExAC,TOPMed,gnomAD
rs144022753	p.Thr400Met	missense variant	-	NC_000017.11:g.70176238C>T	ESP,ExAC,TOPMed,gnomAD
RCV000621624	p.Thr400Met	missense variant	-	NC_000017.11:g.70176238C>T	ClinVar
rs1358172761	p.Asp401Gly	missense variant	-	NC_000017.11:g.70176241A>G	gnomAD
RCV000627126	p.Thr402Met	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
RCV000698640	p.Thr402Met	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176244C>T	ClinVar
rs759070406	p.Thr402Met	missense variant	-	NC_000017.11:g.70176244C>T	ExAC,TOPMed,gnomAD
rs759070406	p.Thr402Lys	missense variant	-	NC_000017.11:g.70176244C>A	ExAC,TOPMed,gnomAD
COSM6081591	p.Thr402Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176244C>G	NCI-TCGA Cosmic
RCV000619357	p.Thr402Met	missense variant	-	NC_000017.11:g.70176244C>T	ClinVar
rs752406680	p.Pro403Thr	missense variant	-	NC_000017.11:g.70176246C>A	ExAC,TOPMed,gnomAD
rs760459401	p.Pro404Arg	missense variant	-	NC_000017.11:g.70176250C>G	ExAC,TOPMed,gnomAD
COSM1710714	p.Pro404Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.70176249C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro404LeuPheSerTerUnk	frameshift	-	NC_000017.11:g.70176246C>-	NCI-TCGA
rs1195342933	p.Asp405Tyr	missense variant	-	NC_000017.11:g.70176252G>T	gnomAD
rs202149686	p.Ile406Thr	missense variant	-	NC_000017.11:g.70176256T>C	-
RCV000171668	p.Ile406Thr	missense variant	-	NC_000017.11:g.70176256T>C	ClinVar
rs753757610	p.Leu408Val	missense variant	-	NC_000017.11:g.70176261C>G	ExAC,TOPMed,gnomAD
rs141069645	p.Asn410Ser	missense variant	-	NC_000017.11:g.70176268A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000755556	p.Asn410Ser	missense variant	-	NC_000017.11:g.70176268A>G	ClinVar
rs1485455146	p.Ala412Ser	missense variant	-	NC_000017.11:g.70176273G>T	TOPMed,gnomAD
rs910587867	p.Ser413Cys	missense variant	-	NC_000017.11:g.70176276A>T	TOPMed
rs779960704	p.Ser413Ile	missense variant	-	NC_000017.11:g.70176277G>T	ExAC,gnomAD
rs779960704	p.Ser413Asn	missense variant	-	NC_000017.11:g.70176277G>A	ExAC,gnomAD
rs373799322	p.Pro415His	missense variant	-	NC_000017.11:g.70176283C>A	ESP,ExAC,TOPMed,gnomAD
rs373799322	p.Pro415Leu	missense variant	-	NC_000017.11:g.70176283C>T	ESP,ExAC,TOPMed,gnomAD
RCV000757418	p.Pro415Leu	missense variant	-	NC_000017.11:g.70176283C>T	ClinVar
RCV000350551	p.Pro420Leu	missense variant	Andersen Tawil syndrome (LQT7)	NC_000017.11:g.70176298C>T	ClinVar
rs749707062	p.Pro420Leu	missense variant	-	NC_000017.11:g.70176298C>T	ExAC,TOPMed,gnomAD
RCV000293237	p.Pro420Leu	missense variant	short QT syndrome (SQT)	NC_000017.11:g.70176298C>T	ClinVar
RCV000407751	p.Pro420Leu	missense variant	Familial atrial fibrillation	NC_000017.11:g.70176298C>T	ClinVar
RCV000248675	p.Pro420Leu	missense variant	-	NC_000017.11:g.70176298C>T	ClinVar
RCV000058292	p.Arg422Leu	missense variant	Congenital long QT syndrome	NC_000017.11:g.70176304G>T	ClinVar
rs199473390	p.Arg422Pro	missense variant	-	NC_000017.11:g.70176304G>C	ExAC,TOPMed,gnomAD
rs199473390	p.Arg422Leu	missense variant	-	NC_000017.11:g.70176304G>T	ExAC,TOPMed,gnomAD
rs199473390	p.Arg422Gln	missense variant	-	NC_000017.11:g.70176304G>A	ExAC,TOPMed,gnomAD
rs1478741381	p.Arg422Trp	missense variant	-	NC_000017.11:g.70176303C>T	gnomAD
rs745372216	p.Arg423Gln	missense variant	-	NC_000017.11:g.70176307G>A	ExAC,gnomAD
RCV000208186	p.Arg423Gln	missense variant	Long QT syndrome (LQTS)	NC_000017.11:g.70176307G>A	ClinVar
NCI-TCGA novel	p.Arg423Gly	missense variant	-	NC_000017.11:g.70176306C>G	NCI-TCGA
NCI-TCGA novel	p.Glu424Lys	missense variant	-	NC_000017.11:g.70176309G>A	NCI-TCGA
rs768959311	p.Ser425Leu	missense variant	-	NC_000017.11:g.70176313C>T	ExAC,gnomAD
rs199473650	p.Cys54Phe	missense variant	-	NC_000017.11:g.70175200G>T	-
rs104894578	p.Arg218Trp	missense variant	-	NC_000017.11:g.70175691C>T	-
rs199473387	p.Thr305Ala	missense variant	-	NC_000017.11:g.70175952A>G	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003811	Cardiac Arrhythmia	phenotype	CTD_human
C0004238	Atrial Fibrillation	disease	BEFREE;HPO;LHGDN
C0005744	Blepharophimosis	disease	HPO
C0011351	Dental Enamel Hypoplasia	disease	HPO
C0011581	Depressive disorder	disease	HPO
C0017923	Glycogen Storage Disease Type IV	disease	BEFREE
C0018790	Cardiac Arrest	disease	BEFREE
C0018799	Heart Diseases	group	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0023976	Long QT Syndrome	disease	BEFREE;GENOMICS_ENGLAND
C0026848	Myopathy	group	BEFREE
C0027051	Myocardial Infarction	disease	RGD
C0027819	Neuroblastoma	group	BEFREE
C0030252	Palpitations	phenotype	HPO
C0030443	Familial Periodic Paralysis	disease	BEFREE;CLINVAR;LHGDN
C0036439	Scoliosis, unspecified	phenotype	BEFREE
C0037274	Dermatologic disorders	group	CTD_human
C0037932	Curvature of spine	phenotype	HPO
C0039070	Syncope	phenotype	BEFREE;HPO
C0039231	Tachycardia	phenotype	HPO
C0042510	Ventricular Fibrillation	disease	BEFREE
C0042514	Tachycardia, Ventricular	disease	BEFREE;CTD_human
C0085612	Ventricular arrhythmia	disease	BEFREE
C0086437	Joint laxity	phenotype	HPO
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151878	Prolonged QT interval	phenotype	HPO
C0151879	Shortened QT interval	phenotype	HPO
C0221357	Brachydactyly	disease	HPO
C0235480	Paroxysmal atrial fibrillation	disease	HPO
C0239234	Low set ears	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240543	Bulbous nose	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0240953	Winged scapula	phenotype	HPO
C0262361	Growth abnormality	phenotype	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0266050	Failure of exfoliation of primary tooth	phenotype	HPO
C0266610	Preauricular dimple	disease	HPO
C0266625	Congenital preauricular sinus	disease	HPO
C0268446	Thyrotoxic periodic paralysis	disease	BEFREE
C0274861	Arsenic Poisoning, Inorganic	disease	CTD_human
C0274862	Nervous System, Organic Arsenic Poisoning	disease	CTD_human
C0311375	Arsenic Poisoning	disease	CTD_human
C0344432	Ventricular tachycardia, polymorphic	disease	BEFREE
C0406810	Carney Complex	disease	BEFREE
C0423112	Short palpebral fissure	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0425591	Dropped beats - heart	phenotype	HPO
C0428977	Bradycardia	phenotype	HPO
C0432072	Dysmorphic features	disease	BEFREE
C0541764	Delayed bone age	phenotype	HPO
C0546969	Preauricular Fistulae, Congenital	disease	HPO
C0575802	Small hand	phenotype	HPO
C0700095	Central neuroblastoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	BEFREE;HPO
C0751851	Arsenic Encephalopathy	disease	CTD_human
C0751852	Arsenic Induced Polyneuropathy	disease	CTD_human
C0877165	Short phalanx of finger	phenotype	HPO
C0878544	Cardiomyopathies	group	BEFREE
C1141890	Congenital long QT syndrome	disease	CLINVAR
C1279412	periodic paralysis (finding)	disease	BEFREE
C1306710	Facial asymmetry	phenotype	HPO
C1563715	Andersen Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;ORPHANET;UNIPROT
C1631597	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	disease	BEFREE;GENOMICS_ENGLAND
C1720983	Channelopathies	group	BEFREE
C1833144	Slender long bone	phenotype	HPO
C1834118	Potato nose	phenotype	HPO
C1835884	Triangular face	phenotype	HPO
C1837084	Short metacarpal	phenotype	HPO
C1839730	Prieto X-linked mental retardation syndrome	disease	BEFREE
C1841648	Short mandibular rami	phenotype	HPO
C1843108	Short palm	phenotype	HPO
C1843687	ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	disease	ORPHANET
C1844509	Antegonial notching of mandible	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1849020	Short metatarsal	phenotype	HPO
C1849089	Broad forehead	phenotype	HPO
C1849540	Delayed eruption of permanent teeth	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1851854	Thin dental enamel	phenotype	HPO
C1855751	Bulbous nasal tip	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1858085	Malar flattening	phenotype	HPO
C1865017	Thin upper lip vermilion	phenotype	HPO
C1865018	Short QT Syndrome 3	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1865020	Short QT Syndrome 1	disease	BEFREE;ORPHANET
C1969404	Prominent frontal sinuses	phenotype	HPO
C1969408	Prominent U wave	phenotype	HPO
C1969410	Bidirectional ventricular ectopy	phenotype	HPO
C2108113	continuous electrocardiogram ventricular tachycardia	phenotype	CLINVAR
C2348199	Short Qt Syndrome	disease	BEFREE;CLINVAR
C2930902	Bidirectional tachycardia	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C3151431	ATRIAL FIBRILLATION, FAMILIAL, 9	disease	CTD_human;UNIPROT
C4020868	Elevated heart rate	phenotype	HPO
C4021553	Periodic hypokalemic paresis	disease	HPO
C4025741	Clinodactyly of the 5th toe	phenotype	HPO
C4072849	Scapular weakness	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	HPO
C4280265	Hyperplasia of frontal sinus	phenotype	HPO
C4280456	Dysplasia of tooth enamel	phenotype	HPO
C4280457	Defective enamel matrix	phenotype	HPO
C4280479	Increased volume of frontal sinus	phenotype	HPO
C4280480	Increased size of frontal sinus	phenotype	HPO
C4280481	Hypertrophy of frontal sinus	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280545	Decreased size of mandibular ramus	phenotype	HPO
C4280586	Curvature of the little toe	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005242	inward rectifier potassium channel activity	IDA
GO:0005242	inward rectifier potassium channel activity	IBA
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA
GO:0042802	identical protein binding	IEA
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006813	potassium ion transport	IDA
GO:0014861	regulation of skeletal muscle contraction via regulation of action potential	IMP
GO:0015693	magnesium ion transport	IEA
GO:0030007	cellular potassium ion homeostasis	TAS
GO:0034765	regulation of ion transmembrane transport	IBA
GO:0051289	protein homotetramerization	IDA
GO:0055119	relaxation of cardiac muscle	IMP
GO:0060075	regulation of resting membrane potential	TAS
GO:0060306	regulation of membrane repolarization	IDA
GO:0061337	cardiac conduction	TAS
GO:0071260	cellular response to mechanical stimulus	IEA
GO:0071805	potassium ion transmembrane transport	IDA
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP
GO:0086004	regulation of cardiac muscle cell contraction	IEA
GO:0086011	membrane repolarization during action potential	IMP
GO:0086012	membrane depolarization during cardiac muscle cell action potential	TAS
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IMP
GO:0086013	membrane repolarization during cardiac muscle cell action potential	TAS
GO:0086091	regulation of heart rate by cardiac conduction	IMP
GO:0090076	relaxation of skeletal muscle	IMP
GO:1901381	positive regulation of potassium ion transmembrane transport	IEA
GO:1990573	potassium ion import across plasma membrane	IDA
GO:1990573	potassium ion import across plasma membrane	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005790	smooth endoplasmic reticulum	IEA
GO:0005791	rough endoplasmic reticulum	IEA
GO:0005794	Golgi apparatus	IEA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0008076	voltage-gated potassium channel complex	IDA
GO:0014704	intercalated disc	IEA
GO:0030315	T-tubule	IEA
GO:0031224	intrinsic component of membrane	IDA
GO:0043025	neuronal cell body	IEA
GO:0043197	dendritic spine	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-112314	Neurotransmitter receptors and postsynaptic signal transmission	TAS
R-HSA-112315	Transmission across Chemical Synapses	TAS
R-HSA-112316	Neuronal System	TAS
R-HSA-1296041	Activation of G protein gated Potassium channels	TAS
R-HSA-1296053	Classical Kir channels	TAS
R-HSA-1296059	G protein gated Potassium channels	TAS
R-HSA-1296065	Inwardly rectifying K+ channels	TAS
R-HSA-1296071	Potassium Channels	TAS
R-HSA-397014	Muscle contraction	TAS
R-HSA-5576886	Phase 4 - resting membrane potential	TAS
R-HSA-5576891	Cardiac conduction	TAS
R-HSA-977443	GABA receptor activation	TAS
R-HSA-977444	GABA B receptor activation	TAS
R-HSA-991365	Activation of GABAB receptors	TAS
R-HSA-997272	Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C046760	15-acetyldeoxynivalenol	15-acetyldeoxynivalenol results in increased expression of KCNJ2 mRNA	23792671
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of KCNJ2 mRNA	23196670
C014464	3,4-dichloroaniline	3,4-dichloroaniline results in decreased expression of KCNJ2 mRNA	24172598
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KCNJ2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of KCNJ2 mRNA	20382639
C496492	abrine	abrine results in decreased expression of KCNJ2 mRNA	31054353
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of KCNJ2 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of KCNJ2 mRNA]	17585979
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in increased expression of KCNJ2 mRNA	23195993
D000638	Amiodarone	Amiodarone results in increased expression of KCNJ2 mRNA	19774075
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of KCNJ2 mRNA	16483693
D000643	Ammonium Chloride	Ammonium Chloride affects the activity of KCNJ2 protein	11687881
D001151	Arsenic	Arsenic results in decreased expression of KCNJ2 mRNA	16835338
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of KCNJ2 protein	22853924
D000077237	Arsenic Trioxide	Ly-364947 inhibits the reaction [Arsenic Trioxide results in decreased expression of KCNJ2 protein]	22853924
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of KCNJ2 mRNA	29523930
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in increased expression of KCNJ2 mRNA	18687144
D001262	Atenolol	KCNJ2 gene affects the susceptibility to Atenolol	15028050
D001464	Barium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	10967048
D001464	Barium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	11283229
D001464	Barium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	15958527; 17347781;
D001464	Barium	Barium results in decreased activity of KCNJ2 protein	12598232
D001464	Barium	Barium results in decreased activity of KCNJ2 protein	17699636
D001464	Barium	Barium results in decreased activity of KCNJ2 protein	23261645
C024986	barium chloride	barium chloride inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	11087224
C487081	belinostat	belinostat results in decreased expression of KCNJ2 mRNA	27188386
D001554	Benzene	Benzene affects the expression of KCNJ2 mRNA	21147609
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of KCNJ2 mRNA	22316170
C006780	bisphenol A	bisphenol A results in increased expression of KCNJ2 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of KCNJ2 mRNA	30951980
C006780	bisphenol A	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of KCNJ2 promoter	23359474
C006780	bisphenol A	bisphenol A results in decreased expression of KCNJ2 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of KCNJ2 mRNA	30816183
C000611646	bisphenol F	bisphenol F results in increased expression of KCNJ2 mRNA	30951980
C584509	C646 compound	C646 compound results in decreased expression of KCNJ2 mRNA	26921506
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of KCNJ2 mRNA	21457566
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of KCNJ2 mRNA	20360939
D002586	Cesium	Cesium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	10967048
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of KCNJ2 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of KCNJ2 mRNA]	17585979
D003630	Daunorubicin	Daunorubicin results in increased expression of KCNJ2 mRNA	26537877; 28940058;
D000077209	Decitabine	Decitabine results in decreased expression of KCNJ2 mRNA	27915011
D003703	Demecolcine	Demecolcine results in increased expression of KCNJ2 mRNA	23649840
D003993	Dibutyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of KCNJ2 promoter	23359474
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of KCNJ2 mRNA	31163220
D004051	Diethylhexyl Phthalate	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of KCNJ2 promoter	23359474
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of KCNJ2 mRNA	20920545
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of KCNJ2 mRNA	20360939
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in decreased expression of KCNJ2 mRNA	17374397
D004237	Diuron	Diuron metabolite results in increased expression of KCNJ2 mRNA	24172598
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KCNJ2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin affects the expression of KCNJ2 mRNA	25529476
D004317	Doxorubicin	Doxorubicin results in increased expression of KCNJ2 mRNA	26537877; 28940058; 30031762;
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of KCNJ2 mRNA	30165855
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of KCNJ2 mRNA	23649840
D005054	Eugenol	Eugenol results in decreased expression of KCNJ2 mRNA	17374397
D005557	Formaldehyde	Formaldehyde results in increased expression of KCNJ2 mRNA	23649840
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D006221	Halothane	KCNJ2 affects the susceptibility to Halothane	17546530
C544151	jinfukang	jinfukang results in decreased expression of KCNJ2 mRNA	27392435
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of KCNJ2 mRNA	26582142
C520284	Ly-364947	Ly-364947 inhibits the reaction [Arsenic Trioxide results in decreased expression of KCNJ2 protein]	22853924
D008694	Methamphetamine	Methamphetamine results in increased expression of KCNJ2 mRNA	29802913
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of KCNJ2 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of KCNJ2 mRNA	23649840
D008942	Mitoxantrone	Mitoxantrone results in increased expression of KCNJ2 mRNA	26537877; 28940058;
C063509	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide	N-(2-(4-bromocinnamylamino)ethyl)-5-isoquinolinesulfonamide inhibits the reaction [TGFB1 protein results in decreased expression of KCNJ2 protein]	22853924
D009532	Nickel	Nickel results in increased expression of KCNJ2 mRNA	23195993
C029938	nickel sulfate	nickel sulfate results in decreased expression of KCNJ2 mRNA	16780908; 17374397;
D009599	Nitroprusside	Nitroprusside affects the activity of KCNJ2 protein	14993195
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of KCNJ2 mRNA	20188158
D010081	Oxazolone	Oxazolone results in decreased expression of KCNJ2 mRNA	17374397
D010100	Oxygen	Oxygen deficiency results in increased expression of KCNJ2 mRNA	24236059
D010100	Oxygen	[Oxygen deficiency co-treated with SCH 442416] results in increased expression of KCNJ2 mRNA	24431311
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in decreased expression of KCNJ2 mRNA	22178795
D010575	Pesticides	Pesticides results in decreased methylation of KCNJ2 gene	28396702
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of KCNJ2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of KCNJ2 mRNA	26272509
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in decreased expression of KCNJ2 mRNA	29432896
D011188	Potassium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	10967048
D011188	Potassium	Cesium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	10967048
D011188	Potassium	KCNJ2 protein results in increased transport of Potassium	10967048
D011188	Potassium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	11283229
D011188	Potassium	KCNJ2 protein results in increased transport of Potassium	11283229
D011188	Potassium	Barium inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	15958527; 17347781;
D011188	Potassium	KCNJ2 protein results in increased transport of Potassium	12598232; 15958527; 17347781;
D011188	Potassium	KCNJ2 protein results in increased transport of Potassium	12118013
D011188	Potassium	barium chloride inhibits the reaction [KCNJ2 protein results in increased transport of Potassium]	11087224
D011188	Potassium	KCNJ2 protein results in increased transport of Potassium	11087224
D011189	Potassium Chloride	Potassium Chloride affects the activity of KCNJ2 protein	11687881
D011433	Propranolol	KCNJ2 gene affects the susceptibility to Propranolol	15028050
C416650	SCH 442416	[Oxygen deficiency co-treated with SCH 442416] results in increased expression of KCNJ2 mRNA	24431311
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of KCNJ2 mRNA	25895662
C017947	sodium arsenite	sodium arsenite results in increased expression of KCNJ2 mRNA	22714537
D000077210	Sunitinib	Sunitinib results in increased expression of KCNJ2 mRNA	31533062
D013739	Testosterone	Testosterone results in increased expression of KCNJ2 protein	17054656
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of KCNJ2 mRNA	20106945
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of KCNJ2 mRNA	26377647
C042172	thallium nitrate	thallium nitrate affects the activity of KCNJ2 protein	11687881
D019284	Thapsigargin	Thapsigargin results in increased expression of KCNJ2 mRNA	22378314
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of KCNJ2 mRNA	30291989
D014212	Tretinoin	Tretinoin results in decreased expression of KCNJ2 mRNA	23724009
D014212	Tretinoin	Tretinoin results in increased expression of KCNJ2 mRNA	21934132
C062527	tribromoethanol	KCNJ2 affects the susceptibility to tribromoethanol	17546530
C012589	trichostatin A	trichostatin A results in decreased expression of KCNJ2 mRNA	24935251
C012589	trichostatin A	trichostatin A results in increased expression of KCNJ2 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of KCNJ2 mRNA	28940058
D014520	Urethane	Urethane results in decreased expression of KCNJ2 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of KCNJ2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of KCNJ2 mRNA	23179753; 26272509;
D014635	Valproic Acid	Valproic Acid results in increased expression of KCNJ2 mRNA	28001369
D000077337	Vorinostat	Vorinostat results in decreased expression of KCNJ2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-1020	Atrial fibrillation
KW-0225	Disease mutation
KW-0407	Ion channel
KW-0406	Ion transport
KW-0449	Lipoprotein
KW-0454	Long QT syndrome
KW-0472	Membrane
KW-0519	Myristate
KW-0630	Potassium
KW-0633	Potassium transport
KW-1185	Reference proteome
KW-0702	S-nitrosylation
KW-0940	Short QT syndrome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport
KW-0851	Voltage-gated channel

Interpro

InterPro ID	InterPro Term
IPR014756	Ig_E-set
IPR041647	IRK_C
IPR016449	K_chnl_inward-rec_Kir
IPR003271	K_chnl_inward-rec_Kir2.1
IPR013518	K_chnl_inward-rec_Kir_cyto
IPR013673	K_chnl_inward-rec_Kir_N
IPR040445	Kir_TM

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01007	IRK
PF17655	IRK_C
PF08466	IRK_N

Gene: KCNJ2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction