CleftGeneDB-Search

Gene: EIF2B3

Basic information

Tag	Content
Uniprot ID	Q9NR50; B2RBH8; D3DPZ2; Q5QP89; Q5QP90; Q8NDB5; Q8WV57; Q9H850;
Entrez ID	8891
Genbank protein ID	AAF91351.1; CAD38962.1; EAX07015.1; EAX07013.1; BAG37225.1; AAH18728.1; BAB14770.1;
Genbank nucleotide ID	NM_020365.4; NM_001166588.2; NM_001261418.1;
Ensembl protein ID	ENSP00000483996; ENSP00000361257; ENSP00000353575;
Ensembl nucleotide ID	ENSG00000070785
Gene name	Translation initiation factor eIF-2B subunit gamma
Gene symbol	EIF2B3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP.
Sequence	MEFQAVVMAV GGGSRMTDLT SSIPKPLLPV GNKPLIWYPL NLLERVGFEE VIVVTTRDVQ 60 KALCAEFKMK MKPDIVCIPD DADMGTADSL RYIYPKLKTD VLVLSCDLIT DVALHEVVDL 120 FRAYDASLAM LMRKGQDSIE PVPGQKGKKK AVEQRDFIGV DSTGKRLLFM ANEADLDEEL 180 VIKGSILQKH PRIRFHTGLV DAHLYCLKKY IVDFLMENGS ITSIRSELIP YLVRKQFSSA 240 SSQQGQEEKE EDLKKKELKS LDIYSFIKEA NTLNLAPYDA CWNACRGDRW EDLSRSQVRC 300 YVHIMKEGLC SRVSTLGLYM EANRQVPKLL SALCPEEPPV HSSAQIVSKH LVGVDSLIGP 360 ETQIGEKSSI KRSVIGSSCL IKDRVTITNC LLMNSVTVEE GSNIQGSVIC NNAVIEKGAD 420 IKDCLIGSGQ RIEAKAKRVN EVIVGNDQLM EI 452

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
6CAJ
6EZO
6K71
6K72
6O81
6O85
6O9Z
6CAJ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	EIF2B3	475379	E2RBJ1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EIF2B3	102187733	A0A452ERT4	Capra hircus	Prediction	More>>
1:1 ortholog	EIF2B3	100065686	F6V4Y8	Equus caballus	Prediction	More>>
1:1 ortholog	EIF2B3	8891	Q9NR50	Homo sapiens	Publication	More>>
1:1 ortholog	Eif2b3	108067	B1AUN2	Mus musculus	Prediction	More>>
1:1 ortholog	EIF2B3		H2R941	Pan troglodytes	Prediction	More>>
1:1 ortholog	EIF2B3	100348406	G1T3H5	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Eif2b3	171145	P70541	Rattus norvegicus	Prediction	More>>
1:1 ortholog	eif2b3	394049	Q7ZTY5	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
EIF2B3	c.1130G>A; p.S377L	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1310971450	p.Val6Leu	missense variant	-	NC_000001.11:g.44981153C>A	gnomAD
rs1452372773	p.Val7Leu	missense variant	-	NC_000001.11:g.44981150C>A	gnomAD
rs182877101	p.Met8Leu	missense variant	-	NC_000001.11:g.44981147T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1339247443	p.Ala9Val	missense variant	-	NC_000001.11:g.44981143G>A	gnomAD
rs1456181265	p.Val10Ile	missense variant	-	NC_000001.11:g.44981141C>T	gnomAD
RCV000317347	p.Gly11Val	missense variant	-	NC_000001.11:g.44981137C>A	ClinVar
rs754415797	p.Gly11Asp	missense variant	-	NC_000001.11:g.44981137C>T	TOPMed,gnomAD
rs754415797	p.Gly11Val	missense variant	-	NC_000001.11:g.44981137C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly11Cys	missense variant	-	NC_000001.11:g.44981138C>A	NCI-TCGA
rs899472467	p.Ser14Pro	missense variant	-	NC_000001.11:g.44981129A>G	TOPMed,gnomAD
rs200409938	p.Arg15Gln	missense variant	-	NC_000001.11:g.44981125C>T	ESP,ExAC,TOPMed,gnomAD
RCV000348967	p.Arg15Gln	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981125C>T	ClinVar
rs775048786	p.Arg15Trp	missense variant	-	NC_000001.11:g.44981126G>A	ExAC,TOPMed,gnomAD
rs778585151	p.Thr17Arg	missense variant	-	NC_000001.11:g.44981119G>C	ExAC,gnomAD
rs749071361	p.Thr20Asn	missense variant	-	NC_000001.11:g.44981110G>T	ExAC,gnomAD
rs151320540	p.Pro24Leu	missense variant	-	NC_000001.11:g.44981098G>A	ESP,ExAC,TOPMed,gnomAD
rs1205822338	p.Lys25Arg	missense variant	-	NC_000001.11:g.44981095T>C	gnomAD
RCV000033201	p.Leu27Gln	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	ClinVar
rs397514647	p.Leu27Gln	missense variant	Leukodystrophy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	UniProt,dbSNP
VAR_068470	p.Leu27Gln	missense variant	Leukodystrophy with vanishing white matter (VWM)	NC_000001.11:g.44981089A>T	UniProt
rs397514647	p.Leu27Gln	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44981089A>T	-
rs752636698	p.Val30Ala	missense variant	-	NC_000001.11:g.44981080A>G	ExAC,TOPMed,gnomAD
rs1166463038	p.Val30Ile	missense variant	-	NC_000001.11:g.44981081C>T	gnomAD
RCV000754838	p.Val30Ala	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981080A>G	ClinVar
RCV000679852	p.Lys33Glu	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981072T>C	ClinVar
rs1425955684	p.Lys33Arg	missense variant	-	NC_000001.11:g.44981071T>C	TOPMed
rs1245591325	p.Pro34His	missense variant	-	NC_000001.11:g.44981068G>T	gnomAD
rs1383986485	p.Leu35Val	missense variant	-	NC_000001.11:g.44981066A>C	gnomAD
rs1463370390	p.Trp37Cys	missense variant	-	NC_000001.11:g.44981058C>A	gnomAD
rs1469488659	p.Trp37Arg	missense variant	-	NC_000001.11:g.44981060A>G	TOPMed
rs1174475428	p.Tyr38His	missense variant	-	NC_000001.11:g.44981057A>G	TOPMed
rs1317663539	p.Pro39Ala	missense variant	-	NC_000001.11:g.44981054G>C	gnomAD
NCI-TCGA novel	p.Leu40Phe	missense variant	-	NC_000001.11:g.44981049C>A	NCI-TCGA
rs1326385218	p.Leu43Pro	missense variant	-	NC_000001.11:g.44981041A>G	gnomAD
rs201162647	p.Glu44Lys	missense variant	-	NC_000001.11:g.44981039C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000296409	p.Glu44Lys	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44981039C>T	ClinVar
rs201162647	p.Glu44Gln	missense variant	-	NC_000001.11:g.44981039C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs139445917	p.Arg45Leu	missense variant	-	NC_000001.11:g.44981035C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139445917	p.Arg45His	missense variant	-	NC_000001.11:g.44981035C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191579939	p.Arg45Cys	missense variant	-	NC_000001.11:g.44981036G>A	1000Genomes,ESP,ExAC,gnomAD
VAR_068471	p.Gly47Glu	Missense	Leukodystrophy with vanishing white matter (VWM) [MIM:603896]	-	UniProt
rs1198822553	p.Val54Ile	missense variant	-	NC_000001.11:g.44978449C>T	TOPMed,gnomAD
rs1198822553	p.Val54Phe	missense variant	-	NC_000001.11:g.44978449C>A	TOPMed,gnomAD
rs1198822553	p.Val54Phe	missense variant	-	NC_000001.11:g.44978449C>A	NCI-TCGA
rs1310369038	p.Thr55Ser	missense variant	-	NC_000001.11:g.44978446T>A	TOPMed
rs1229439940	p.Thr56Ser	missense variant	-	NC_000001.11:g.44978443T>A	TOPMed
rs780307542	p.Lys61Arg	missense variant	-	NC_000001.11:g.44978427T>C	ExAC,gnomAD
COSM910099	p.Ala62Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44978424G>A	NCI-TCGA Cosmic
rs758627166	p.Ala62Pro	missense variant	-	NC_000001.11:g.44978425C>G	ExAC,gnomAD
rs758627166	p.Ala62Thr	missense variant	-	NC_000001.11:g.44978425C>T	ExAC,gnomAD
rs757621916	p.Cys64Arg	missense variant	-	NC_000001.11:g.44978419A>G	ExAC,gnomAD
COSM910098	p.Cys64Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44978418C>T	NCI-TCGA Cosmic
rs1340794110	p.Ala65Val	missense variant	-	NC_000001.11:g.44978415G>A	TOPMed
rs1442706104	p.Glu66Gln	missense variant	-	NC_000001.11:g.44978413C>G	TOPMed,gnomAD
rs761201445	p.Met69Thr	missense variant	-	NC_000001.11:g.44978403A>G	ExAC,TOPMed,gnomAD
rs764519183	p.Met69Val	missense variant	-	NC_000001.11:g.44978404T>C	ExAC,gnomAD
rs1395655361	p.Lys70Glu	missense variant	-	NC_000001.11:g.44978401T>C	gnomAD
rs765921585	p.Pro73Ala	missense variant	-	NC_000001.11:g.44978392G>C	ExAC,gnomAD
rs1441108536	p.Asp74Asn	missense variant	-	NC_000001.11:g.44978389C>T	gnomAD
rs1354865390	p.Asp74Ala	missense variant	-	NC_000001.11:g.44978388T>G	gnomAD
rs144054571	p.Ile75Thr	missense variant	-	NC_000001.11:g.44978385A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000593792	p.Ile75Thr	missense variant	-	NC_000001.11:g.44978385A>G	ClinVar
rs774721437	p.Val76Met	missense variant	-	NC_000001.11:g.44978383C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val76MetPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.44978383_44978384insAT	NCI-TCGA
rs768258901	p.Cys77Tyr	missense variant	-	NC_000001.11:g.44978379C>T	ExAC,gnomAD
rs1159173232	p.Cys77Gly	missense variant	-	NC_000001.11:g.44978380A>C	gnomAD
rs776568212	p.Ala82Thr	missense variant	-	NC_000001.11:g.44978365C>T	ExAC,gnomAD
rs776568212	p.Ala82Thr	missense variant	-	NC_000001.11:g.44978365C>T	NCI-TCGA
rs768670174	p.Met84Val	missense variant	-	NC_000001.11:g.44978359T>C	ExAC,gnomAD
rs746995968	p.Gly85Glu	missense variant	-	NC_000001.11:g.44978355C>T	ExAC,gnomAD
rs113994022	p.Ala87Val	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44978349G>A	ExAC,TOPMed,gnomAD
RCV000004689	p.Ala87Val	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44978349G>A	ClinVar
rs1166774581	p.Leu90Val	missense variant	-	NC_000001.11:g.44978341A>C	TOPMed
rs772111952	p.Arg91Cys	missense variant	-	NC_000001.11:g.44978338G>A	ExAC,TOPMed,gnomAD
rs141988913	p.Arg91His	missense variant	-	NC_000001.11:g.44978337C>T	ESP,TOPMed,gnomAD
RCV000763340	p.Arg91His	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44978337C>T	ClinVar
RCV000498180	p.Arg91His	missense variant	-	NC_000001.11:g.44978337C>T	ClinVar
rs746090884	p.Tyr92Cys	missense variant	-	NC_000001.11:g.44978334T>C	ExAC,TOPMed,gnomAD
rs1292740512	p.Ile93Val	missense variant	-	NC_000001.11:g.44978332T>C	TOPMed
rs1449745508	p.Ile93Met	missense variant	-	NC_000001.11:g.44978330T>C	gnomAD
rs778945531	p.Pro95Gln	missense variant	-	NC_000001.11:g.44978325G>T	ExAC,TOPMed,gnomAD
rs778945531	p.Pro95Leu	missense variant	-	NC_000001.11:g.44978325G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu97Ile	missense variant	-	NC_000001.11:g.44978320G>T	NCI-TCGA
rs768615168	p.Cys106Ser	missense variant	-	NC_000001.11:g.44941643C>G	ExAC,gnomAD
rs768615168	p.Cys106Phe	missense variant	-	NC_000001.11:g.44941643C>A	ExAC,gnomAD
rs760687647	p.Leu108Val	missense variant	-	NC_000001.11:g.44941638G>C	ExAC,TOPMed,gnomAD
rs775628640	p.Ile109Val	missense variant	-	NC_000001.11:g.44941635T>C	ExAC,gnomAD
rs1426476205	p.Thr110Pro	missense variant	-	NC_000001.11:g.44941632T>G	TOPMed
rs745869984	p.Val112Ile	missense variant	-	NC_000001.11:g.44941626C>T	ExAC,TOPMed,gnomAD
COSM6126627	p.Val112Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941626C>A	NCI-TCGA Cosmic
rs373262348	p.Ala113Val	missense variant	-	NC_000001.11:g.44941622G>A	ESP,TOPMed,gnomAD
rs1362979993	p.Ala113Thr	missense variant	-	NC_000001.11:g.44941623C>T	gnomAD
COSM4008458	p.Glu116Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941613T>G	NCI-TCGA Cosmic
rs1423018308	p.Val117Ala	missense variant	-	NC_000001.11:g.44941610A>G	gnomAD
NCI-TCGA novel	p.Val117Ile	missense variant	-	NC_000001.11:g.44941611C>T	NCI-TCGA
rs1164638252	p.Leu120Gln	missense variant	-	NC_000001.11:g.44941601A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg122SerPheSerTerUnk	frameshift	-	NC_000001.11:g.44941594_44941595insA	NCI-TCGA
rs749857178	p.Ala123Val	missense variant	-	NC_000001.11:g.44941592G>A	ExAC,gnomAD
rs755510412	p.Ala123Thr	missense variant	-	NC_000001.11:g.44941593C>T	ExAC,TOPMed,gnomAD
rs764856042	p.Asp125Glu	missense variant	-	NC_000001.11:g.44941585A>C	ExAC,gnomAD
rs144947838	p.Ala126Val	missense variant	-	NC_000001.11:g.44941583G>A	ESP,ExAC,TOPMed,gnomAD
rs965531974	p.Leu128Ile	missense variant	-	NC_000001.11:g.44941578G>T	TOPMed
rs763969996	p.Met130Ile	missense variant	-	NC_000001.11:g.44941570C>T	ExAC,gnomAD
rs753614565	p.Met130Thr	missense variant	-	NC_000001.11:g.44941571A>G	ExAC,TOPMed,gnomAD
rs886046361	p.Met130Val	missense variant	-	NC_000001.11:g.44941572T>C	-
RCV000375562	p.Met130Val	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44941572T>C	ClinVar
rs760489343	p.Met132Leu	missense variant	-	NC_000001.11:g.44941566T>A	ExAC,gnomAD
rs771864524	p.Gly135Asp	missense variant	-	NC_000001.11:g.44941556C>T	ExAC,gnomAD
rs775430377	p.Gly135Cys	missense variant	-	NC_000001.11:g.44941557C>A	ExAC,gnomAD
rs759538945	p.Gln136Glu	missense variant	-	NC_000001.11:g.44941554G>C	ExAC,gnomAD
rs113994023	p.Gln136Arg	missense variant	-	NC_000001.11:g.44941553T>C	ESP,ExAC,TOPMed,gnomAD
rs113994023	p.Gln136Pro	missense variant	-	NC_000001.11:g.44941553T>G	ESP,ExAC,TOPMed,gnomAD
rs1304063332	p.Asp137Val	missense variant	-	NC_000001.11:g.44941550T>A	gnomAD
rs773479090	p.Ser138Gly	missense variant	-	NC_000001.11:g.44941548T>C	ExAC,gnomAD
rs373870315	p.Ile139Val	missense variant	-	NC_000001.11:g.44941545T>C	ESP
NCI-TCGA novel	p.Pro141His	missense variant	-	NC_000001.11:g.44941538G>T	NCI-TCGA
rs770013712	p.Pro143His	missense variant	-	NC_000001.11:g.44941532G>T	ExAC,gnomAD
rs1217482975	p.Gly144Val	missense variant	-	NC_000001.11:g.44941529C>A	TOPMed
rs781640168	p.Gly144Ser	missense variant	-	NC_000001.11:g.44941530C>T	ExAC,gnomAD
rs1196687035	p.Gln145Lys	missense variant	-	NC_000001.11:g.44941527G>T	gnomAD
NCI-TCGA novel	p.Lys146Arg	missense variant	-	NC_000001.11:g.44941523T>C	NCI-TCGA
COSM1343023	p.Lys146Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44941523T>G	NCI-TCGA Cosmic
rs1269166334	p.Gly147Glu	missense variant	-	NC_000001.11:g.44941520C>T	gnomAD
RCV000318973	p.Gly147Arg	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44941521C>G	ClinVar
rs529374377	p.Gly147Arg	missense variant	-	NC_000001.11:g.44941521C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys148Thr	missense variant	-	NC_000001.11:g.44941517T>G	NCI-TCGA
rs151056457	p.Lys148Glu	missense variant	-	NC_000001.11:g.44941518T>C	1000Genomes,ExAC,TOPMed
NCI-TCGA novel	p.Lys150SerPheSerTerUnk	frameshift	-	NC_000001.11:g.44941510_44941511TT>-	NCI-TCGA
rs148977100	p.Ala151Thr	missense variant	-	NC_000001.11:g.44941509C>T	ESP,ExAC,TOPMed,gnomAD
rs748937918	p.Ala151GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.44941510T>-	NCI-TCGA,NCI-TCGA Cosmic
rs147773599	p.Arg155His	missense variant	-	NC_000001.11:g.44926730C>T	ESP,ExAC,TOPMed,gnomAD
rs564587689	p.Arg155Cys	missense variant	-	NC_000001.11:g.44926731G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755805377	p.Asp156Asn	missense variant	-	NC_000001.11:g.44926728C>T	ExAC,gnomAD
rs1212896938	p.Asp156Glu	missense variant	-	NC_000001.11:g.44926726G>C	TOPMed
rs755805377	p.Asp156Tyr	missense variant	-	NC_000001.11:g.44926728C>A	ExAC,gnomAD
rs1162725437	p.Ile158Thr	missense variant	-	NC_000001.11:g.44926721A>G	TOPMed,gnomAD
COSM4008457	p.Ile158Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926721A>C	NCI-TCGA Cosmic
rs1244905492	p.Asp161Asn	missense variant	-	NC_000001.11:g.44926713C>T	gnomAD
rs1191002259	p.Thr163Ile	missense variant	-	NC_000001.11:g.44926706G>A	gnomAD
NCI-TCGA novel	p.Lys165Arg	missense variant	-	NC_000001.11:g.44926700T>C	NCI-TCGA
rs1261172003	p.Arg166Ser	missense variant	-	NC_000001.11:g.44926696C>G	gnomAD
rs752434700	p.Arg166Lys	missense variant	-	NC_000001.11:g.44926697C>T	ExAC,TOPMed,gnomAD
rs767209968	p.Leu168Val	missense variant	-	NC_000001.11:g.44926692G>C	ExAC,gnomAD
rs1085307682	p.Met170Leu	missense variant	-	NC_000001.11:g.44926686T>G	TOPMed
rs1356151673	p.Met170Thr	missense variant	-	NC_000001.11:g.44926685A>G	TOPMed,gnomAD
RCV000489845	p.Met170Leu	missense variant	-	NC_000001.11:g.44926686T>G	ClinVar
rs201318616	p.Ala171Thr	missense variant	-	NC_000001.11:g.44926683C>T	1000Genomes
COSM4008456	p.Glu173Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926677C>T	NCI-TCGA Cosmic
COSM910096	p.Glu179Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.44926659C>A	NCI-TCGA Cosmic
COSM3490183	p.Gly184Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44926644C>T	NCI-TCGA Cosmic
rs775973608	p.Ile186Val	missense variant	-	NC_000001.11:g.44926638T>C	gnomAD
rs545295324	p.Gln188His	missense variant	-	NC_000001.11:g.44926630C>A	TOPMed,gnomAD
rs747741036	p.Pro191Arg	missense variant	-	NC_000001.11:g.44897439G>C	ExAC,gnomAD
rs572440776	p.Arg192Gly	missense variant	-	NC_000001.11:g.44897437T>C	1000Genomes,ExAC,gnomAD
rs954719897	p.Ile193Val	missense variant	-	NC_000001.11:g.44897434T>C	TOPMed,gnomAD
rs1343195505	p.Arg194Cys	missense variant	-	NC_000001.11:g.44897431G>A	gnomAD
rs754587808	p.Arg194His	missense variant	-	NC_000001.11:g.44897430C>T	NCI-TCGA
rs754587808	p.Arg194His	missense variant	-	NC_000001.11:g.44897430C>T	ExAC,TOPMed,gnomAD
rs768160221	p.Phe195Cys	missense variant	-	NC_000001.11:g.44897427A>C	ExAC,gnomAD
rs768160221	p.Phe195Tyr	missense variant	-	NC_000001.11:g.44897427A>T	ExAC,gnomAD
NCI-TCGA novel	p.His196Tyr	missense variant	-	NC_000001.11:g.44897425G>A	NCI-TCGA
rs749213552	p.Thr197Lys	missense variant	-	NC_000001.11:g.44897421G>T	ExAC,TOPMed,gnomAD
rs749213552	p.Thr197Met	missense variant	-	NC_000001.11:g.44897421G>A	ExAC,TOPMed,gnomAD
rs749213552	p.Thr197Met	missense variant	-	NC_000001.11:g.44897421G>A	NCI-TCGA,NCI-TCGA Cosmic
rs765291246	p.Val200Gly	missense variant	-	NC_000001.11:g.44897412A>C	ExAC,gnomAD
rs1407552201	p.Asp201Glu	missense variant	-	NC_000001.11:g.44897408A>C	TOPMed
rs539215452	p.Ala202Ser	missense variant	-	NC_000001.11:g.44897407C>A	1000Genomes,ExAC,gnomAD
rs753871128	p.Ala202Gly	missense variant	-	NC_000001.11:g.44897406G>C	ExAC,gnomAD
rs764338643	p.His203Arg	missense variant	-	NC_000001.11:g.44897403T>C	ExAC,gnomAD
rs1325188133	p.Tyr205Cys	missense variant	-	NC_000001.11:g.44897397T>C	TOPMed
COSM910095	p.Tyr205Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.44897396G>T	NCI-TCGA Cosmic
rs1198932499	p.Tyr210Cys	missense variant	-	NC_000001.11:g.44897382T>C	TOPMed,gnomAD
rs1427372133	p.Tyr210His	missense variant	-	NC_000001.11:g.44897383A>G	gnomAD
RCV000305963	p.Val212Met	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44897377C>T	ClinVar
rs373839928	p.Val212Met	missense variant	-	NC_000001.11:g.44897377C>T	ESP,ExAC,TOPMed,gnomAD
rs1437693828	p.Met216Thr	missense variant	-	NC_000001.11:g.44897364A>G	TOPMed,gnomAD
rs775053819	p.Gly219Trp	missense variant	-	NC_000001.11:g.44897356C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly219Glu	missense variant	-	NC_000001.11:g.44897355C>T	NCI-TCGA
rs775053819	p.Gly219Arg	missense variant	-	NC_000001.11:g.44897356C>G	ExAC,gnomAD
rs1423816360	p.Ser220Ter	stop gained	-	NC_000001.11:g.44881737G>C	TOPMed
rs113994024	p.Arg225Gln	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44881722C>T	ExAC,TOPMed,gnomAD
RCV000004687	p.Arg225Gln	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881722C>T	ClinVar
rs766866104	p.Arg225Trp	missense variant	-	NC_000001.11:g.44881723G>A	ExAC,TOPMed,gnomAD
rs1157148757	p.Glu227Lys	missense variant	-	NC_000001.11:g.44881717C>T	gnomAD
rs768087422	p.Ile229Leu	missense variant	-	NC_000001.11:g.44881711T>G	ExAC,gnomAD
rs538917969	p.Ile229Met	missense variant	-	NC_000001.11:g.44881709A>C	1000Genomes,ExAC,gnomAD
COSM3490181	p.Pro230Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44881708G>A	NCI-TCGA Cosmic
RCV000754860	p.Gln236Glu	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881690G>C	ClinVar
rs1183011377	p.Phe237Ser	missense variant	-	NC_000001.11:g.44881686A>G	gnomAD
rs775070429	p.Ser239Pro	missense variant	-	NC_000001.11:g.44881681A>G	ExAC,gnomAD
rs771719069	p.Ala240Pro	missense variant	-	NC_000001.11:g.44881678C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser242Leu	missense variant	-	NC_000001.11:g.44881671G>A	NCI-TCGA
rs745626063	p.Gln243Arg	missense variant	-	NC_000001.11:g.44881668T>C	ExAC,TOPMed,gnomAD
rs1421264085	p.Gln243His	missense variant	-	NC_000001.11:g.44881667T>G	TOPMed,gnomAD
rs778596154	p.Gln244Glu	missense variant	-	NC_000001.11:g.44881666G>C	ExAC,TOPMed,gnomAD
rs1475528092	p.Gln244Arg	missense variant	-	NC_000001.11:g.44881665T>C	gnomAD
rs749223861	p.Gly245Arg	missense variant	-	NC_000001.11:g.44881663C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly245AspPheSerTerUnk	frameshift	-	NC_000001.11:g.44881662C>-	NCI-TCGA
rs886046360	p.Glu248Gly	missense variant	-	NC_000001.11:g.44881653T>C	-
RCV000267466	p.Glu248Gly	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44881653T>C	ClinVar
rs777903500	p.Glu248Gln	missense variant	-	NC_000001.11:g.44881654C>G	ExAC,gnomAD
rs756206284	p.Asp252Asn	missense variant	-	NC_000001.11:g.44881642C>T	ExAC,gnomAD
rs752836193	p.Asp252Glu	missense variant	-	NC_000001.11:g.44881640A>C	ExAC,gnomAD
rs767779243	p.Leu253Gln	missense variant	-	NC_000001.11:g.44881638A>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys254Asn	missense variant	-	NC_000001.11:g.44881634C>G	NCI-TCGA
rs749235251	p.Ile263Thr	missense variant	-	NC_000001.11:g.44880005A>G	ExAC,gnomAD
rs777513653	p.Ile267Lys	missense variant	-	NC_000001.11:g.44879993A>T	ExAC,gnomAD
rs756123675	p.Glu269Ter	stop gained	-	NC_000001.11:g.44879988C>A	ExAC,TOPMed,gnomAD
rs756123675	p.Glu269Lys	missense variant	-	NC_000001.11:g.44879988C>T	ExAC,TOPMed,gnomAD
rs1280332396	p.Ala270Thr	missense variant	-	NC_000001.11:g.44879985C>T	gnomAD
rs1403380001	p.Asn271Asp	missense variant	-	NC_000001.11:g.44879982T>C	gnomAD
rs935336864	p.Asn271Ser	missense variant	-	NC_000001.11:g.44879981T>C	TOPMed,gnomAD
rs199893632	p.Tyr278Cys	missense variant	-	NC_000001.11:g.44879960T>C	ESP,ExAC,TOPMed,gnomAD
RCV000192378	p.Tyr278Cys	missense variant	-	NC_000001.11:g.44879960T>C	ClinVar
rs755224836	p.Asp279Asn	missense variant	-	NC_000001.11:g.44879958C>T	ExAC,gnomAD
rs759452164	p.Ala280Thr	missense variant	-	NC_000001.11:g.44879955C>T	TOPMed,gnomAD
rs759452164	p.Ala280Ser	missense variant	-	NC_000001.11:g.44879955C>A	TOPMed,gnomAD
rs1425237496	p.Asn283Ser	missense variant	-	NC_000001.11:g.44879945T>C	gnomAD
rs373822484	p.Asn283Lys	missense variant	-	NC_000001.11:g.44879944A>T	ESP,ExAC,TOPMed,gnomAD
rs1234430228	p.Ala284Asp	missense variant	-	NC_000001.11:g.44879942G>T	TOPMed,gnomAD
COSM4008455	p.Ala284Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44879942G>A	NCI-TCGA Cosmic
rs766757800	p.Cys285Tyr	missense variant	-	NC_000001.11:g.44879939C>T	ExAC,gnomAD
rs371478084	p.Arg286Gln	missense variant	-	NC_000001.11:g.44879936C>T	ESP,ExAC,TOPMed,gnomAD
rs1334771611	p.Arg286Ter	stop gained	-	NC_000001.11:g.44879937G>A	gnomAD
rs3738247	p.Asp288Glu	missense variant	-	NC_000001.11:g.44879929G>C	UniProt,dbSNP
VAR_048920	p.Asp288Glu	missense variant	-	NC_000001.11:g.44879929G>C	UniProt
rs3738247	p.Asp288Glu	missense variant	-	NC_000001.11:g.44879929G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs750807171	p.Asp288Asn	missense variant	-	NC_000001.11:g.44879931C>T	ExAC,gnomAD
rs527264601	p.Leu293Phe	missense variant	-	NC_000001.11:g.44879914C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs565005625	p.Ser294Thr	missense variant	-	NC_000001.11:g.44879913A>T	1000Genomes,ExAC,gnomAD
rs1221861482	p.Arg295Gly	missense variant	-	NC_000001.11:g.44879910T>C	gnomAD
rs759186119	p.Ser296Leu	missense variant	-	NC_000001.11:g.44879906G>A	ExAC,gnomAD
rs776756653	p.Val298Leu	missense variant	-	NC_000001.11:g.44879901C>G	ExAC,TOPMed,gnomAD
rs1371706573	p.Val298Gly	missense variant	-	NC_000001.11:g.44879900A>C	TOPMed,gnomAD
rs776756653	p.Val298Met	missense variant	-	NC_000001.11:g.44879901C>T	ExAC,TOPMed,gnomAD
rs368540656	p.Arg299Cys	missense variant	-	NC_000001.11:g.44879898G>A	ESP,ExAC,TOPMed,gnomAD
rs528321143	p.Arg299His	missense variant	-	NC_000001.11:g.44879897C>T	ExAC,TOPMed,gnomAD
COSM4008454	p.Cys300Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44879894C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met305Val	missense variant	-	NC_000001.11:g.44879880T>C	NCI-TCGA
rs769802165	p.Met305Thr	missense variant	-	NC_000001.11:g.44879879A>G	ExAC,gnomAD
rs748141041	p.Glu307Gln	missense variant	-	NC_000001.11:g.44879874C>G	ExAC,gnomAD
rs768921509	p.Gly308Val	missense variant	-	NC_000001.11:g.44879870C>A	ExAC,TOPMed
rs768921509	p.Gly308Glu	missense variant	-	NC_000001.11:g.44879870C>T	ExAC,TOPMed
NCI-TCGA novel	p.Leu309Phe	missense variant	-	NC_000001.11:g.44879868G>A	NCI-TCGA
rs747128213	p.Cys310Ser	missense variant	-	NC_000001.11:g.44879864C>G	ExAC,gnomAD
rs747128213	p.Cys310Tyr	missense variant	-	NC_000001.11:g.44879864C>T	ExAC,gnomAD
rs776505832	p.Arg312Gln	missense variant	-	NC_000001.11:g.44879858C>T	TOPMed,gnomAD
rs780075504	p.Arg312Ter	stop gained	-	NC_000001.11:g.44879859G>A	ExAC,gnomAD
rs779299307	p.Leu316Val	missense variant	-	NC_000001.11:g.44879847G>C	ExAC,gnomAD
rs757731187	p.Met320Val	missense variant	-	NC_000001.11:g.44879835T>C	ExAC,gnomAD
rs576234757	p.Glu321Lys	missense variant	-	NC_000001.11:g.44879832C>T	1000Genomes,ExAC,gnomAD
rs1256799241	p.Arg324Thr	missense variant	-	NC_000001.11:g.44879822C>G	gnomAD
rs1027354839	p.Gln325Arg	missense variant	-	NC_000001.11:g.44879819T>C	TOPMed,gnomAD
rs1235790172	p.Gln325Ter	stop gained	-	NC_000001.11:g.44879820G>A	gnomAD
rs779245777	p.Val326Met	missense variant	-	NC_000001.11:g.44875695C>T	ExAC,TOPMed,gnomAD
rs146286158	p.Pro327Ser	missense variant	-	NC_000001.11:g.44875692G>A	ESP,ExAC,TOPMed,gnomAD
rs138741202	p.Lys328Arg	missense variant	-	NC_000001.11:g.44875688T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778184497	p.Ser331Cys	missense variant	-	NC_000001.11:g.44875679G>C	ExAC,gnomAD
COSM910094	p.Ser331Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44875680A>G	NCI-TCGA Cosmic
COSM3490180	p.Ser331Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44875679G>T	NCI-TCGA Cosmic
rs1356359760	p.Pro335Leu	missense variant	-	NC_000001.11:g.44875667G>A	gnomAD
NCI-TCGA novel	p.Glu337Gln	missense variant	-	NC_000001.11:g.44875662C>G	NCI-TCGA
rs1244748635	p.Pro338Ala	missense variant	-	NC_000001.11:g.44875659G>C	TOPMed,gnomAD
rs1244748635	p.Pro338Ser	missense variant	-	NC_000001.11:g.44875659G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro338PhePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.44875649_44875659TGGACTGGTGG>-	NCI-TCGA
rs1317571601	p.Val340Phe	missense variant	-	NC_000001.11:g.44875653C>A	TOPMed,gnomAD
NCI-TCGA novel	p.His341Tyr	missense variant	-	NC_000001.11:g.44875650G>A	NCI-TCGA
rs199638815	p.Ser342Leu	missense variant	-	NC_000001.11:g.44875646G>A	ExAC,TOPMed,gnomAD
rs199638815	p.Ser342Trp	missense variant	-	NC_000001.11:g.44875646G>C	ExAC,TOPMed,gnomAD
RCV000004690	p.Ile346Thr	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44875634A>G	ClinVar
rs119474039	p.Ile346Thr	missense variant	Leukoencephalopathy with vanishing white matter (vwm)	NC_000001.11:g.44875634A>G	-
rs765959337	p.Ile346Met	missense variant	-	NC_000001.11:g.44875633A>C	ExAC,TOPMed,gnomAD
rs1238242521	p.Leu351Arg	missense variant	-	NC_000001.11:g.44875619A>C	gnomAD
rs149557497	p.Gly353Val	missense variant	-	NC_000001.11:g.44874822C>A	ESP
rs1157528939	p.Ile358Thr	missense variant	-	NC_000001.11:g.44874807A>G	TOPMed,gnomAD
rs1393610574	p.Ile358Val	missense variant	-	NC_000001.11:g.44874808T>C	TOPMed
NCI-TCGA novel	p.Gly359Arg	missense variant	-	NC_000001.11:g.44874805C>T	NCI-TCGA
rs1326055214	p.Thr362Ala	missense variant	-	NC_000001.11:g.44874796T>C	TOPMed
rs1194628597	p.Gln363Glu	missense variant	-	NC_000001.11:g.44874793G>C	TOPMed,gnomAD
rs1478937608	p.Gln363His	missense variant	-	NC_000001.11:g.44874791C>G	gnomAD
rs949052759	p.Ile364Thr	missense variant	-	NC_000001.11:g.44874789A>G	TOPMed
rs150426784	p.Glu366Asp	missense variant	-	NC_000001.11:g.44874782C>A	ESP,ExAC,TOPMed,gnomAD
rs369175038	p.Glu366Lys	missense variant	-	NC_000001.11:g.44874784C>T	ESP,ExAC,TOPMed,gnomAD
COSM910093	p.Ser369Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874774G>A	NCI-TCGA Cosmic
rs763994002	p.Ile370Val	missense variant	-	NC_000001.11:g.44874772T>C	ExAC,TOPMed,gnomAD
rs139247652	p.Arg372Cys	missense variant	-	NC_000001.11:g.44874766G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775556092	p.Arg372His	missense variant	-	NC_000001.11:g.44874765C>T	ExAC,TOPMed,gnomAD
rs774696817	p.Ser377Leu	missense variant	-	NC_000001.11:g.44874750G>A	ExAC,TOPMed,gnomAD
rs142651157	p.Cys379Ser	missense variant	-	NC_000001.11:g.44874744C>G	ESP,ExAC,TOPMed,gnomAD
rs749560754	p.Leu380Phe	missense variant	-	NC_000001.11:g.44874742G>A	ExAC,gnomAD
rs770256354	p.Ile381Met	missense variant	-	NC_000001.11:g.44874737T>C	ExAC,gnomAD
rs773530595	p.Ile381Leu	missense variant	-	NC_000001.11:g.44874739T>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile381Val	missense variant	-	NC_000001.11:g.44874739T>C	NCI-TCGA
rs201613944	p.Lys382Glu	missense variant	-	NC_000001.11:g.44874736T>C	1000Genomes,gnomAD
rs143688644	p.Arg384Lys	missense variant	-	NC_000001.11:g.44874729C>T	1000Genomes,TOPMed,gnomAD
NCI-TCGA novel	p.Arg384Gly	missense variant	-	NC_000001.11:g.44874730T>C	NCI-TCGA
rs781679802	p.Val385Leu	missense variant	-	NC_000001.11:g.44874727C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr386Ile	missense variant	-	NC_000001.11:g.44874723G>A	NCI-TCGA
rs1478559597	p.Ile387Met	missense variant	-	NC_000001.11:g.44874719A>C	gnomAD
rs755472775	p.Ile387Thr	missense variant	-	NC_000001.11:g.44874720A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr388Ile	missense variant	-	NC_000001.11:g.44874717G>A	NCI-TCGA
rs745323934	p.Asn389Ser	missense variant	-	NC_000001.11:g.44874714T>C	ExAC,gnomAD
COSM4008453	p.Asn389Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874715T>C	NCI-TCGA Cosmic
rs778619398	p.Cys390Gly	missense variant	-	NC_000001.11:g.44874712A>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu392Phe	missense variant	-	NC_000001.11:g.44874706G>A	NCI-TCGA
rs985975888	p.Met393Arg	missense variant	-	NC_000001.11:g.44874702A>C	TOPMed,gnomAD
COSM6063435	p.Thr397Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874690G>C	NCI-TCGA Cosmic
COSM681192	p.Glu399Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44874685C>G	NCI-TCGA Cosmic
RCV000307262	p.Gly401Arg	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44874679C>T	ClinVar
rs886046359	p.Gly401Arg	missense variant	-	NC_000001.11:g.44874679C>T	-
rs770622953	p.Asn403Ser	missense variant	-	NC_000001.11:g.44857802T>C	ExAC,gnomAD
rs748821477	p.Gln405Glu	missense variant	-	NC_000001.11:g.44857797G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly406Ala	missense variant	-	NC_000001.11:g.44857793C>G	NCI-TCGA
rs777419400	p.Gly406Val	missense variant	-	NC_000001.11:g.44857793C>A	ExAC,gnomAD
rs139902464	p.Val408Ile	missense variant	-	NC_000001.11:g.44857788C>T	1000Genomes
rs201617348	p.Cys410Ser	missense variant	-	NC_000001.11:g.44857781C>G	TOPMed,gnomAD
rs755755644	p.Asn412Ser	missense variant	-	NC_000001.11:g.44857775T>C	ExAC,gnomAD
rs1160961620	p.Asn412Asp	missense variant	-	NC_000001.11:g.44857776T>C	gnomAD
NCI-TCGA novel	p.Ala413Asp	missense variant	-	NC_000001.11:g.44857772G>T	NCI-TCGA
COSM6126630	p.Ala413Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857773C>A	NCI-TCGA Cosmic
rs902143849	p.Ala413Val	missense variant	-	NC_000001.11:g.44857772G>A	TOPMed
rs547795033	p.Ile415Met	missense variant	-	NC_000001.11:g.44857765G>C	ExAC,TOPMed,gnomAD
rs1412362061	p.Ile415Val	missense variant	-	NC_000001.11:g.44857767T>C	TOPMed,gnomAD
rs754879236	p.Glu416Gly	missense variant	-	NC_000001.11:g.44857763T>C	ExAC,gnomAD
rs529847913	p.Glu416Lys	missense variant	-	NC_000001.11:g.44857764C>T	1000Genomes,ExAC,gnomAD
rs529847913	p.Glu416Gln	missense variant	-	NC_000001.11:g.44857764C>G	1000Genomes,ExAC,gnomAD
rs553737269	p.Gly418Arg	missense variant	-	NC_000001.11:g.44857758C>G	gnomAD
rs1488491008	p.Gly418Val	missense variant	-	NC_000001.11:g.44857757C>A	gnomAD
rs553737269	p.Gly418Cys	missense variant	-	NC_000001.11:g.44857758C>A	gnomAD
rs751561316	p.Ile421Val	missense variant	-	NC_000001.11:g.44857749T>C	ExAC,gnomAD
rs1289184955	p.Leu425Trp	missense variant	-	NC_000001.11:g.44857736A>C	gnomAD
rs762959486	p.Ile426Thr	missense variant	-	NC_000001.11:g.44857733A>G	ExAC,TOPMed,gnomAD
rs750471493	p.Ser428Asn	missense variant	-	NC_000001.11:g.44857727C>T	ExAC,TOPMed,gnomAD
rs1376786416	p.Gly429Arg	missense variant	-	NC_000001.11:g.44857725C>G	gnomAD
NCI-TCGA novel	p.Gln430Ter	stop gained	-	NC_000001.11:g.44857722G>A	NCI-TCGA
rs765453086	p.Gln430Arg	missense variant	-	NC_000001.11:g.44857721T>C	ExAC,TOPMed,gnomAD
rs1341459099	p.Ile432Thr	missense variant	-	NC_000001.11:g.44857715A>G	gnomAD
COSM910092	p.Ile432Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857715A>C	NCI-TCGA Cosmic
COSM1343020	p.Ala436Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44857704C>A	NCI-TCGA Cosmic
rs754821944	p.Ala436Val	missense variant	-	NC_000001.11:g.44851003G>A	ExAC,gnomAD
rs746817105	p.Arg438Ter	stop gained	-	NC_000001.11:g.44850998G>A	ExAC,gnomAD
rs779896143	p.Arg438Gln	missense variant	-	NC_000001.11:g.44850997C>T	ExAC,gnomAD
rs1385199547	p.Val439Ala	missense variant	-	NC_000001.11:g.44850994A>G	TOPMed
rs371253804	p.Val439Met	missense variant	-	NC_000001.11:g.44850995C>T	ESP,ExAC,gnomAD
RCV000312091	p.Asn440Ser	missense variant	Leukoencephalopathy with vanishing white matter (VWM)	NC_000001.11:g.44850991T>C	ClinVar
rs367765945	p.Asn440Ser	missense variant	-	NC_000001.11:g.44850991T>C	ESP,TOPMed
rs1465780150	p.Glu441Asp	missense variant	-	NC_000001.11:g.44850987C>G	gnomAD
rs1425351258	p.Ile443Leu	missense variant	-	NC_000001.11:g.44850983T>G	gnomAD
rs374466099	p.Val444Met	missense variant	-	NC_000001.11:g.44850980C>T	ESP,ExAC,TOPMed,gnomAD
rs757501110	p.Val444Ala	missense variant	-	NC_000001.11:g.44850979A>G	ExAC,gnomAD
rs1258382708	p.Gly445Arg	missense variant	-	NC_000001.11:g.44850977C>T	TOPMed,gnomAD
rs1267875305	p.Asp447Asn	missense variant	-	NC_000001.11:g.44850971C>T	gnomAD
COSM295454	p.Gln448His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.44850966C>A	NCI-TCGA Cosmic
rs1192795415	p.Met450Ile	missense variant	-	NC_000001.11:g.44850960C>T	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004138	Ataxias, Hereditary	group	GENOMICS_ENGLAND
C0011253	Delusions	disease	HPO
C0013362	Dysarthria	disease	HPO
C0014544	Epilepsy	disease	HPO
C0023380	Lethargy	phenotype	HPO
C0023520	Leukodystrophy	disease	GENOMICS_ENGLAND
C0025322	Premature Menopause	phenotype	HPO
C0026838	Muscle Spasticity	phenotype	HPO
C0029124	Optic Atrophy	disease	HPO
C0030567	Parkinson Disease	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0085633	Mood swings	disease	HPO
C0231686	Gait, Unsteady	phenotype	HPO
C0232940	Secondary physiologic amenorrhea	disease	HPO
C0233794	Memory impairment	phenotype	HPO
C0240735	Personality change	phenotype	HPO
C0270612	Leukoencephalopathies	group	HPO
C0338474	Central nervous system demyelination	disease	HPO
C0542476	Forgetful	phenotype	HPO
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0751295	Memory Loss	phenotype	HPO
C1836550	Loss of developmental milestones	phenotype	HPO
C1836830	Developmental regression	disease	HPO
C1847967	OVARIOLEUKODYSTROPHY	disease	CTD_human;ORPHANET;UNIPROT
C1850493	Psychomotor regression, progressive	phenotype	HPO
C1855009	Psychomotor regression in infants	phenotype	HPO
C1855019	Psychomotor regression	phenotype	HPO
C1855996	Psychomotor regression beginning in infancy	phenotype	HPO
C1857121	Neurodevelopmental regression	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	disease	CLINVAR;ORPHANET;UNIPROT
C1858995	Decreased circulating progesterone	phenotype	HPO
C1859014	Primary gonadal insufficiency	phenotype	HPO
C1859678	Mental deterioration in childhood	phenotype	HPO
C2677328	Cerebral hypomyelination	phenotype	HPO
C2960129	Vanishing white matter disease	disease	BEFREE
C4025319	Cessation of head growth	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003743	translation initiation factor activity	IBA
GO:0005085	guanyl-nucleotide exchange factor activity	IBA
GO:0005515	protein binding	IPI
GO:0016779	nucleotidyltransferase activity	IEA
GO:0003743	translation initiation factor activity	IDA
GO:0005085	guanyl-nucleotide exchange factor activity	IDA
GO:0005085	guanyl-nucleotide exchange factor activity	IMP
GO:0008135	translation factor activity, RNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0002183	cytoplasmic translational initiation	IBA
GO:0006413	translational initiation	IDA
GO:0009408	response to heat	ISS
GO:0009408	response to heat	TAS
GO:0009749	response to glucose	ISS
GO:0014003	oligodendrocyte development	IMP
GO:0021766	hippocampus development	IEA
GO:0043434	response to peptide hormone	ISS
GO:0050852	T cell receptor signaling pathway	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS
GO:0005851	eukaryotic translation initiation factor 2B complex	IDA
GO:0005851	eukaryotic translation initiation factor 2B complex	IBA
GO:0032045	guanyl-nucleotide exchange factor complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-72613	Eukaryotic Translation Initiation	TAS
R-HSA-72731	Recycling of eIF2:GDP	TAS
R-HSA-72737	Cap-dependent Translation Initiation	TAS
R-HSA-72766	Translation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of EIF2B3 mRNA	28801915
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of EIF2B3 mRNA	19114083
C070055	2,3',4,4',5-pentachlorobiphenyl	2,3',4,4',5-pentachlorobiphenyl results in increased expression of EIF2B3 mRNA	31388691
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of EIF2B3 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of EIF2B3 mRNA	20406850
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of EIF2B3 mRNA	21346803
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of EIF2B3 mRNA	21346803
D020106	Acrylamide	Acrylamide results in increased expression of EIF2B3 mRNA	30807115
D020106	Acrylamide	Acrylamide results in increased expression of EIF2B3 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of EIF2B3 gene	27153756
C000593263	afuresertib	afuresertib results in decreased expression of EIF2B3 mRNA	28960945
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of EIF2B3 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of EIF2B3 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EIF2B3 mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of EIF2B3 mRNA	21715664
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of EIF2B3 intron	30157460
C023888	beta-hexachlorocyclohexane	beta-hexachlorocyclohexane results in increased expression of EIF2B3 mRNA	25270620
C006780	bisphenol A	bisphenol A results in decreased expression of EIF2B3 mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of EIF2B3 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of EIF2B3 gene	28505145
C018475	butyraldehyde	butyraldehyde results in increased expression of EIF2B3 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of EIF2B3 mRNA	23741332
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of EIF2B3 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of EIF2B3 mRNA]	31150632
D016572	Cyclosporine	Cyclosporine results in increased expression of EIF2B3 mRNA	20106945; 25562108;
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of EIF2B3 mRNA]	27941970
C000944	dicrotophos	dicrotophos results in decreased expression of EIF2B3 mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in decreased expression of EIF2B3 mRNA	18042831
D004726	Endosulfan	Endosulfan results in increased expression of EIF2B3 mRNA	29391264
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of EIF2B3 protein	23301498
D004958	Estradiol	Estradiol affects the expression of EIF2B3 mRNA	22574217
D000431	Ethanol	Ethanol results in increased expression of EIF2B3 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of EIF2B3 mRNA	23129252
D005485	Flutamide	Flutamide results in decreased expression of EIF2B3 mRNA	24793618
D005485	Flutamide	Flutamide results in increased expression of EIF2B3 mRNA	24136188
D005557	Formaldehyde	Formaldehyde results in decreased expression of EIF2B3 mRNA	23649840
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane affects the expression of EIF2B3 mRNA	22001173
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of EIF2B3 mRNA	25613284
D015474	Isotretinoin	Isotretinoin results in decreased expression of EIF2B3 mRNA	20436886
C098607	JP8 aviation fuel	JP8 aviation fuel results in decreased expression of EIF2B3 protein	17337753
D008701	Methapyrilene	Methapyrilene results in increased methylation of EIF2B3 intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of EIF2B3 mRNA	26011545
C063855	microcystin RR	microcystin RR results in increased expression of EIF2B3 protein	19111056
C000622638	MLN7243	MLN7243 results in increased sumoylation of EIF2B3 protein	31285264
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of EIF2B3 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of EIF2B3 mRNA	25554681; 25620056;
D010100	Oxygen	Oxygen deficiency results in decreased expression of EIF2B3 mRNA	26516004
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of EIF2B3 mRNA	30529165
D000073878	Palm Oil	Palm Oil results in decreased expression of EIF2B3 mRNA	18042831
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of EIF2B3 mRNA	16221955; 19162173;
D010634	Phenobarbital	Phenobarbital affects the expression of EIF2B3 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in increased expression of EIF2B3 mRNA	19162173
C018637	phorone	phorone affects the expression of EIF2B3 mRNA	18198479
C006253	pirinixic acid	pirinixic acid results in increased expression of EIF2B3 mRNA	18301758
C006253	pirinixic acid	pirinixic acid results in increased expression of EIF2B3 mRNA	19162173
D010936	Plant Extracts	Plant Extracts results in increased expression of EIF2B3 mRNA	23557933
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of EIF2B3 mRNA]	31150632
C017947	sodium arsenite	sodium arsenite results in increased expression of EIF2B3 mRNA	29361514
C016104	sodium bichromate	sodium bichromate results in increased expression of EIF2B3 mRNA	22561333
D000077210	Sunitinib	Sunitinib results in increased expression of EIF2B3 mRNA	31533062
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of EIF2B3 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of EIF2B3 mRNA	23411599
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of EIF2B3 mRNA	26743178
D014635	Valproic Acid	Valproic Acid affects the expression of EIF2B3 mRNA	17963808

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0396	Initiation factor
KW-1026	Leukodystrophy
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0648	Protein biosynthesis
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR005835	NTP_transferase_dom
IPR029044	Nucleotide-diphossugar_trans

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00483	NTP_transferase

Gene: EIF2B3

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

Identified variants/mutations related to cleft phenotype

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