CleftGeneDB-Search

Gene: AQP7

Basic information

Tag	Content
Uniprot ID	O14520; Q08E94; Q5T5L9; Q8NHM3;
Entrez ID	364
Genbank protein ID	BAA21745.1; BAC05693.1; AAI19674.1; BAF98770.1; BAH13332.1; AAI19673.1;
Genbank nucleotide ID	XM_005251453.3; NM_001318157.1; NM_001170.2; NM_001318158.1; XM_011517866.2;
Ensembl protein ID	ENSP00000412868; ENSP00000297988;
Ensembl nucleotide ID	ENSG00000165269
Gene name	Aquaporin-7
Gene symbol	AQP7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	Forms a channel that mediates water and glycerol transport across cell membranes at neutral pH (PubMed:9405233, PubMed:11952783, PubMed:30423801, PubMed:30420639). The channel is also permeable to urea (PubMed:9405233). Plays an important role in body energy homeostasis under conditions that promote lipid catabolism, giving rise to glycerol and free fatty acids. Mediates glycerol export from adipocytes. After release into the blood stream, glycerol is used for gluconeogenesis in the liver to maintain normal blood glucose levels and prevent fasting hypoglycemia. Required for normal glycerol reabsorption in the kidney (By similarity).
Sequence	MVQASGHRRS TRGSKMVSWS VIAKIQEILQ RKMVREFLAE FMSTYVMMVF GLGSVAHMVL 60 NKKYGSYLGV NLGFGFGVTM GVHVAGRISG AHMNAAVTFA NCALGRVPWR KFPVYVLGQF 120 LGSFLAAATI YSLFYTAILH FSGGQLMVTG PVATAGIFAT YLPDHMTLWR GFLNEAWLTG 180 MLQLCLFAIT DQENNPALPG TEALVIGILV VIIGVSLGMN TGYAINPSRD LPPRIFTFIA 240 GWGKQVFSNG ENWWWVPVVA PLLGAYLGGI IYLVFIGSTI PREPLKLEDS VAYEDHGITV 300 LPKMGSHEPT ISPLTPVSVS PANRSSVHPA PPLHESMALE HF 342

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
6KXW
6N1G
6QZI
6QZJ

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
AQP7	c.538C>T; p.G180R	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1458881244	p.Val2Phe	missense variant	-	NC_000009.12:g.33401259C>A	TOPMed,gnomAD
rs143956595	p.Ala4Val	missense variant	-	NC_000009.12:g.33401252G>A	ESP,TOPMed
rs763009579	p.Ser5Ala	missense variant	-	NC_000009.12:g.33401250A>C	ExAC,gnomAD
rs148119598	p.Gly6Arg	missense variant	-	NC_000009.12:g.33401247C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374964943	p.His7Gln	missense variant	-	NC_000009.12:g.33401242G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs959914653	p.His7Asn	missense variant	-	NC_000009.12:g.33401244G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg8Lys	missense variant	-	NC_000009.12:g.33401240C>T	NCI-TCGA
rs143724569	p.Arg9Trp	missense variant	-	NC_000009.12:g.33401238G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776777658	p.Arg9Gln	missense variant	-	NC_000009.12:g.33401237C>T	ExAC,TOPMed,gnomAD
rs776777658	p.Arg9Pro	missense variant	-	NC_000009.12:g.33401237C>G	ExAC,TOPMed,gnomAD
rs1308054467	p.Thr11Ile	missense variant	-	NC_000009.12:g.33395190G>A	TOPMed
rs139297434	p.Arg12Cys	missense variant	-	NC_000009.12:g.33395188G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139297434	p.Arg12Cys	missense variant	-	NC_000009.12:g.33395188G>A	UniProt,dbSNP
VAR_067253	p.Arg12Cys	missense variant	-	NC_000009.12:g.33395188G>A	UniProt
rs777690481	p.Arg12His	missense variant	-	NC_000009.12:g.33395187C>T	ExAC,TOPMed,gnomAD
rs758186124	p.Lys15Glu	missense variant	-	NC_000009.12:g.33395179T>C	ExAC,gnomAD
rs752676074	p.Met16Val	missense variant	-	NC_000009.12:g.33395176T>C	ExAC,gnomAD
rs201166466	p.Met16Thr	missense variant	-	NC_000009.12:g.33395175A>G	gnomAD
rs1421013136	p.Met16Ile	missense variant	-	NC_000009.12:g.33395174C>A	gnomAD
rs185204201	p.Trp19Ser	missense variant	-	NC_000009.12:g.33395166C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs185204201	p.Trp19Ter	stop gained	-	NC_000009.12:g.33395166C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1477831537	p.Trp19Ter	stop gained	-	NC_000009.12:g.33395165C>T	TOPMed,gnomAD
rs1477831537	p.Trp19Cys	missense variant	-	NC_000009.12:g.33395165C>G	TOPMed,gnomAD
rs1450363188	p.Val21Ala	missense variant	-	NC_000009.12:g.33395160A>G	gnomAD
rs766484596	p.Val21Met	missense variant	-	NC_000009.12:g.33395161C>T	ExAC,TOPMed,gnomAD
rs760862357	p.Ile22Val	missense variant	-	NC_000009.12:g.33395158T>C	ExAC,gnomAD
rs1206150599	p.Ile22Met	missense variant	-	NC_000009.12:g.33395156T>C	TOPMed
rs1317523871	p.Ile22Thr	missense variant	-	NC_000009.12:g.33395157A>G	gnomAD
rs750700265	p.Ile25Asn	missense variant	-	NC_000009.12:g.33395148A>T	ExAC
rs767860854	p.Gln26His	missense variant	-	NC_000009.12:g.33395144C>A	ExAC,TOPMed,gnomAD
rs145775825	p.Glu27Lys	missense variant	-	NC_000009.12:g.33395143C>T	1000Genomes,ExAC,gnomAD
rs1232662359	p.Glu27Asp	missense variant	-	NC_000009.12:g.33395141T>A	gnomAD
rs1341168484	p.Ile28Thr	missense variant	-	NC_000009.12:g.33395139A>G	gnomAD
rs774787164	p.Ile28Met	missense variant	-	NC_000009.12:g.33395138T>C	ExAC,gnomAD
rs2381005	p.Leu29Met	missense variant	-	NC_000009.12:g.33395137G>T	ExAC,gnomAD
rs192851993	p.Leu29Pro	missense variant	-	NC_000009.12:g.33395136A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2381005	p.Leu29Val	missense variant	-	NC_000009.12:g.33395137G>C	ExAC,gnomAD
rs745617679	p.Gln30ArgGlyArgTerUnk	stop gained	-	NC_000009.12:g.33395133_33395134insCATCTTCCTC	ExAC
COSM6183311	p.Gln30Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33395133T>A	NCI-TCGA Cosmic
rs776252656	p.Arg31Ser	missense variant	-	NC_000009.12:g.33395129C>G	ExAC,TOPMed,gnomAD
rs543495409	p.Val34Met	missense variant	-	NC_000009.12:g.33395122C>T	1000Genomes,ExAC,gnomAD
rs2381004	p.Val34Ala	missense variant	-	NC_000009.12:g.33395121A>G	ExAC,gnomAD
rs2381004	p.Val34Glu	missense variant	-	NC_000009.12:g.33395121A>T	ExAC,gnomAD
rs747841241	p.Arg35Ter	stop gained	-	NC_000009.12:g.33395119G>A	ExAC,TOPMed,gnomAD
rs763689078	p.Arg35Gln	missense variant	-	NC_000009.12:g.33395118C>T	ExAC,TOPMed,gnomAD
rs747841241	p.Arg35Gly	missense variant	-	NC_000009.12:g.33395119G>C	ExAC,TOPMed,gnomAD
rs1170273419	p.Phe37Leu	missense variant	-	NC_000009.12:g.33395113A>G	gnomAD
rs2381003	p.Leu38Val	missense variant	-	NC_000009.12:g.33395110G>C	ExAC,gnomAD
rs2381003	p.Leu38Val	missense variant	-	NC_000009.12:g.33395110G>C	UniProt,dbSNP
VAR_061343	p.Leu38Val	missense variant	-	NC_000009.12:g.33395110G>C	UniProt
rs780091659	p.Leu38Pro	missense variant	-	NC_000009.12:g.33395109A>G	ExAC,gnomAD
rs2381003	p.Leu38Met	missense variant	-	NC_000009.12:g.33395110G>T	ExAC,gnomAD
rs1457558837	p.Ala39Val	missense variant	-	NC_000009.12:g.33395106G>A	gnomAD
NCI-TCGA novel	p.Ala39Thr	missense variant	-	NC_000009.12:g.33395107C>T	NCI-TCGA
rs2381002	p.Glu40Lys	missense variant	-	NC_000009.12:g.33395104C>T	ExAC,TOPMed,gnomAD
rs1278071704	p.Met42Val	missense variant	-	NC_000009.12:g.33395098T>C	gnomAD
rs558128835	p.Met42Ile	missense variant	-	NC_000009.12:g.33395096C>T	1000Genomes,ExAC,gnomAD
rs764563140	p.Ser43Asn	missense variant	-	NC_000009.12:g.33395094C>T	ExAC,gnomAD
rs776199160	p.Thr44Pro	missense variant	-	NC_000009.12:g.33395092T>G	ExAC,gnomAD
rs776199160	p.Thr44Ala	missense variant	-	NC_000009.12:g.33395092T>C	ExAC,gnomAD
rs760196810	p.Tyr45Ter	stop gained	-	NC_000009.12:g.33395087A>C	ExAC,gnomAD
rs1333082206	p.Val46Ile	missense variant	-	NC_000009.12:g.33395086C>T	gnomAD
rs1447127817	p.Met47Val	missense variant	-	NC_000009.12:g.33395083T>C	gnomAD
rs1411612556	p.Met48Thr	missense variant	-	NC_000009.12:g.33395079A>G	gnomAD
rs768771734	p.Val49Ile	missense variant	-	NC_000009.12:g.33387092C>T	ExAC,gnomAD
rs575153087	p.Gly51Cys	missense variant	-	NC_000009.12:g.33387086C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs575153087	p.Gly51Ser	missense variant	-	NC_000009.12:g.33387086C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756610430	p.Gly51Val	missense variant	-	NC_000009.12:g.33387085C>A	ExAC,gnomAD
rs1196769580	p.Leu52Val	missense variant	-	NC_000009.12:g.33387083G>C	TOPMed
rs1267813063	p.Leu52Arg	missense variant	-	NC_000009.12:g.33387082A>C	TOPMed
rs750945114	p.Gly53Cys	missense variant	-	NC_000009.12:g.33387080C>A	ExAC,gnomAD
rs538923905	p.Val55Met	missense variant	-	NC_000009.12:g.33387074C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1263139303	p.Ala56Thr	missense variant	-	NC_000009.12:g.33387071C>T	gnomAD
rs752210629	p.His57Arg	missense variant	-	NC_000009.12:g.33387067T>C	ExAC,gnomAD
rs764813738	p.Met58Thr	missense variant	-	NC_000009.12:g.33387064A>G	ExAC,gnomAD
rs764813738	p.Met58Lys	missense variant	-	NC_000009.12:g.33387064A>T	ExAC,gnomAD
rs1209613166	p.Val59Gly	missense variant	-	NC_000009.12:g.33387061A>C	gnomAD
rs4008659	p.Val59Leu	missense variant	-	NC_000009.12:g.33387062C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1209613166	p.Val59Ala	missense variant	-	NC_000009.12:g.33387061A>G	gnomAD
COSM1314772	p.Leu60Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33387059G>C	NCI-TCGA Cosmic
rs753629469	p.Lys62Arg	missense variant	-	NC_000009.12:g.33387052T>C	ExAC,gnomAD
rs1354514467	p.Lys62Ter	stop gained	-	NC_000009.12:g.33387053T>A	gnomAD
NCI-TCGA novel	p.Lys62Thr	missense variant	-	NC_000009.12:g.33387052T>G	NCI-TCGA
rs4008658	p.Lys63Thr	missense variant	-	NC_000009.12:g.33387049T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766128992	p.Lys63Ter	stop gained	-	NC_000009.12:g.33387050T>A	ExAC
COSM1108330	p.Lys63Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33387048T>G	NCI-TCGA Cosmic
rs199711780	p.Tyr64Phe	missense variant	-	NC_000009.12:g.33387046T>A	ExAC,TOPMed,gnomAD
rs1276354660	p.Tyr64His	missense variant	-	NC_000009.12:g.33387047A>G	TOPMed,gnomAD
rs553316319	p.Tyr64Ter	stop gained	-	NC_000009.12:g.33387045A>C	1000Genomes,ExAC,TOPMed
rs368849644	p.Gly65Arg	missense variant	-	NC_000009.12:g.33387044C>T	ESP,ExAC,TOPMed,gnomAD
rs1384802325	p.Ser66Asn	missense variant	-	NC_000009.12:g.33387040C>T	gnomAD
rs775905309	p.Leu68Phe	missense variant	-	NC_000009.12:g.33387035G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly69Cys	missense variant	-	NC_000009.12:g.33387032C>A	NCI-TCGA
rs781616926	p.Asn71Lys	missense variant	-	NC_000009.12:g.33387024G>C	ExAC,gnomAD
rs781616926	p.Asn71Lys	missense variant	-	NC_000009.12:g.33387024G>T	ExAC,gnomAD
rs746373896	p.Asn71Ile	missense variant	-	NC_000009.12:g.33387025T>A	ExAC,TOPMed,gnomAD
rs746373896	p.Asn71Ser	missense variant	-	NC_000009.12:g.33387025T>C	ExAC,TOPMed,gnomAD
rs757776208	p.Leu72Trp	missense variant	-	NC_000009.12:g.33387022A>C	ExAC,gnomAD
rs1374071314	p.Gly73Ser	missense variant	-	NC_000009.12:g.33387020C>T	gnomAD
rs1198614474	p.Gly73Asp	missense variant	-	NC_000009.12:g.33387019C>T	gnomAD
rs140405277	p.Gly75Val	missense variant	-	NC_000009.12:g.33387013C>A	ESP,ExAC,gnomAD
rs747608427	p.Gly75Ser	missense variant	-	NC_000009.12:g.33387014C>T	ExAC,TOPMed,gnomAD
rs146743129	p.Phe76Leu	missense variant	-	NC_000009.12:g.33387009G>C	ESP,ExAC,TOPMed,gnomAD
rs536416831	p.Phe76Leu	missense variant	-	NC_000009.12:g.33387011A>G	1000Genomes,ExAC,gnomAD
rs1354676296	p.Gly77Val	missense variant	-	NC_000009.12:g.33387007C>A	TOPMed
rs766191156	p.Gly77Arg	missense variant	-	NC_000009.12:g.33387008C>T	ExAC,TOPMed,gnomAD
rs1270218464	p.Val78Ile	missense variant	-	NC_000009.12:g.33387005C>T	gnomAD
rs750256339	p.Thr79Ile	missense variant	-	NC_000009.12:g.33387001G>A	ExAC,TOPMed,gnomAD
rs1215848555	p.Thr79Ala	missense variant	-	NC_000009.12:g.33387002T>C	gnomAD
rs761869327	p.Met80Ile	missense variant	-	NC_000009.12:g.33386997C>T	ExAC,gnomAD
rs767509430	p.Met80Thr	missense variant	-	NC_000009.12:g.33386998A>G	ExAC,TOPMed,gnomAD
rs774538753	p.Gly81Arg	missense variant	-	NC_000009.12:g.33386996C>T	ExAC,gnomAD
rs763225810	p.Val82Gly	missense variant	-	NC_000009.12:g.33386992A>C	ExAC,TOPMed
rs764126290	p.Val82Leu	missense variant	-	NC_000009.12:g.33386993C>G	ExAC,gnomAD
rs375803801	p.His83Gln	missense variant	-	NC_000009.12:g.33386988G>T	ESP,ExAC,TOPMed,gnomAD
rs1182364775	p.Val84Gly	missense variant	-	NC_000009.12:g.33386986A>C	TOPMed
rs567492290	p.Val84Met	missense variant	-	NC_000009.12:g.33386987C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs567492290	p.Val84Leu	missense variant	-	NC_000009.12:g.33386987C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1397868274	p.Ala85Thr	missense variant	-	NC_000009.12:g.33386984C>T	gnomAD
rs747557155	p.Ala85Val	missense variant	-	NC_000009.12:g.33386983G>A	ExAC,gnomAD
rs754511517	p.Gly86Val	missense variant	-	NC_000009.12:g.33386980C>A	ExAC,gnomAD
rs754511517	p.Gly86Ala	missense variant	-	NC_000009.12:g.33386980C>G	ExAC,gnomAD
rs754511517	p.Gly86Asp	missense variant	-	NC_000009.12:g.33386980C>T	ExAC,gnomAD
rs371783551	p.Arg87His	missense variant	-	NC_000009.12:g.33386977C>T	ESP,ExAC,TOPMed,gnomAD
rs143391243	p.Arg87Cys	missense variant	-	NC_000009.12:g.33386978G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs569224546	p.Ile88Thr	missense variant	-	NC_000009.12:g.33386974A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767456180	p.Ile88Leu	missense variant	-	NC_000009.12:g.33386975T>G	ExAC,gnomAD
rs767456180	p.Ile88Val	missense variant	-	NC_000009.12:g.33386975T>C	ExAC,gnomAD
rs762878686	p.Ser89Tyr	missense variant	-	NC_000009.12:g.33386971G>T	ExAC,gnomAD
rs1198707602	p.Ser89Pro	missense variant	-	NC_000009.12:g.33386972A>G	gnomAD
rs762878686	p.Ser89Cys	missense variant	-	NC_000009.12:g.33386971G>C	ExAC,gnomAD
rs1349541243	p.Gly90Ala	missense variant	-	NC_000009.12:g.33386541C>G	gnomAD
NCI-TCGA novel	p.Ala91Val	missense variant	-	NC_000009.12:g.33386538G>A	NCI-TCGA
rs767970054	p.His92Arg	missense variant	-	NC_000009.12:g.33386535T>C	ExAC,gnomAD
rs1243127641	p.Met93Thr	missense variant	-	NC_000009.12:g.33386532A>G	TOPMed
rs762210355	p.Met93Val	missense variant	-	NC_000009.12:g.33386533T>C	ExAC,gnomAD
rs374393354	p.Ala95Thr	missense variant	-	NC_000009.12:g.33386527C>T	ESP,ExAC,TOPMed,gnomAD
rs1238821337	p.Ala96Gly	missense variant	-	NC_000009.12:g.33386523G>C	TOPMed
rs759061075	p.Val97Met	missense variant	-	NC_000009.12:g.33386521C>T	ExAC,gnomAD
rs770671678	p.Thr98Ser	missense variant	-	NC_000009.12:g.33386517G>C	ExAC,gnomAD
rs776307581	p.Thr98Ala	missense variant	-	NC_000009.12:g.33386518T>C	ExAC,gnomAD
rs941138025	p.Phe99Leu	missense variant	-	NC_000009.12:g.33386515A>G	TOPMed,gnomAD
rs77962308	p.Ala100Ser	missense variant	-	NC_000009.12:g.33386512C>A	1000Genomes,ExAC,gnomAD
rs77962308	p.Ala100Thr	missense variant	-	NC_000009.12:g.33386512C>T	1000Genomes,ExAC,gnomAD
rs1468629772	p.Cys102Tyr	missense variant	-	NC_000009.12:g.33386505C>T	gnomAD
rs1468629772	p.Cys102Ser	missense variant	-	NC_000009.12:g.33386505C>G	gnomAD
rs140976103	p.Ala103Val	missense variant	-	NC_000009.12:g.33386502G>A	1000Genomes,ESP,TOPMed,gnomAD
rs1256940846	p.Ala103Thr	missense variant	-	NC_000009.12:g.33386503C>T	gnomAD
rs1298308230	p.Gly105Val	missense variant	-	NC_000009.12:g.33386496C>A	gnomAD
NCI-TCGA novel	p.Gly105Asp	missense variant	-	NC_000009.12:g.33386496C>T	NCI-TCGA
rs778763120	p.Arg106Cys	missense variant	-	NC_000009.12:g.33386494G>A	ExAC,TOPMed,gnomAD
rs140411243	p.Arg106His	missense variant	-	NC_000009.12:g.33386493C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778763120	p.Arg106Ser	missense variant	-	NC_000009.12:g.33386494G>T	ExAC,TOPMed,gnomAD
rs142586635	p.Val107Leu	missense variant	-	NC_000009.12:g.33386491C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142586635	p.Val107Met	missense variant	-	NC_000009.12:g.33386491C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1324502794	p.Val107Ala	missense variant	-	NC_000009.12:g.33386490A>G	TOPMed
rs750711308	p.Pro108Ala	missense variant	-	NC_000009.12:g.33386488G>C	ExAC,TOPMed,gnomAD
rs750711308	p.Pro108Ser	missense variant	-	NC_000009.12:g.33386488G>A	ExAC,TOPMed,gnomAD
rs1241930172	p.Trp109Arg	missense variant	-	NC_000009.12:g.33386485A>G	gnomAD
rs1181251066	p.Trp109Ter	stop gained	-	NC_000009.12:g.33386484C>T	TOPMed,gnomAD
rs767765778	p.Arg110Gly	missense variant	-	NC_000009.12:g.33386482T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg110Ser	missense variant	-	NC_000009.12:g.33386480C>A	NCI-TCGA
rs373004742	p.Pro113Leu	missense variant	-	NC_000009.12:g.33386472G>A	ESP,ExAC,TOPMed,gnomAD
rs373004742	p.Pro113Arg	missense variant	-	NC_000009.12:g.33386472G>C	ESP,ExAC,TOPMed,gnomAD
rs74668961	p.Tyr115His	missense variant	-	NC_000009.12:g.33386467A>G	ExAC,gnomAD
RCV000454905	p.Tyr115His	missense variant	-	NC_000009.12:g.33386467A>G	ClinVar
rs148428903	p.Gly118Ala	missense variant	-	NC_000009.12:g.33386457C>G	ESP,ExAC,TOPMed,gnomAD
rs148428903	p.Gly118Glu	missense variant	-	NC_000009.12:g.33386457C>T	ESP,ExAC,TOPMed,gnomAD
rs988869324	p.Gly118Arg	missense variant	-	NC_000009.12:g.33386458C>T	TOPMed
rs747926408	p.Gln119Ter	stop gained	-	NC_000009.12:g.33386455G>A	ExAC,gnomAD
rs1251354215	p.Phe120Ser	missense variant	-	NC_000009.12:g.33386451A>G	gnomAD
NCI-TCGA novel	p.Leu121Pro	missense variant	-	NC_000009.12:g.33386448A>G	NCI-TCGA
rs1236871781	p.Gly122Asp	missense variant	-	NC_000009.12:g.33386445C>T	gnomAD
rs1306505924	p.Leu125Pro	missense variant	-	NC_000009.12:g.33386436A>G	TOPMed,gnomAD
rs577783586	p.Ala126Val	missense variant	-	NC_000009.12:g.33386433G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs577783586	p.Ala126Glu	missense variant	-	NC_000009.12:g.33386433G>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala128Asp	missense variant	-	NC_000009.12:g.33386427G>T	NCI-TCGA
rs756281506	p.Thr129Ala	missense variant	-	NC_000009.12:g.33386425T>C	ExAC,gnomAD
rs1033231484	p.Tyr131Asp	missense variant	-	NC_000009.12:g.33386419A>C	TOPMed,gnomAD
rs1373479176	p.Ser132Arg	missense variant	-	NC_000009.12:g.33386414A>T	gnomAD
NCI-TCGA novel	p.Leu133Phe	missense variant	-	NC_000009.12:g.33386413G>A	NCI-TCGA
rs745937443	p.Phe134Ser	missense variant	-	NC_000009.12:g.33386409A>G	ExAC
rs199840488	p.Thr136Met	missense variant	-	NC_000009.12:g.33386195G>A	ExAC,TOPMed,gnomAD
rs978997160	p.Thr136Ala	missense variant	-	NC_000009.12:g.33386404T>C	TOPMed
rs763685025	p.Ala137Thr	missense variant	-	NC_000009.12:g.33386193C>T	ExAC,gnomAD
rs1213358838	p.Ala137Val	missense variant	-	NC_000009.12:g.33386192G>A	TOPMed,gnomAD
rs1213358838	p.Ala137Asp	missense variant	-	NC_000009.12:g.33386192G>T	TOPMed,gnomAD
rs1322003615	p.Ile138Leu	missense variant	-	NC_000009.12:g.33386190T>G	TOPMed
rs1246565722	p.Leu139Phe	missense variant	-	NC_000009.12:g.33386187G>A	TOPMed
rs758080799	p.His140Tyr	missense variant	-	NC_000009.12:g.33386184G>A	ExAC,gnomAD
rs752508547	p.Ser142Leu	missense variant	-	NC_000009.12:g.33386177G>A	ExAC,TOPMed,gnomAD
rs776499439	p.Gly143Asp	missense variant	-	NC_000009.12:g.33386174C>T	ExAC,gnomAD
rs759504102	p.Gly143Cys	missense variant	-	NC_000009.12:g.33386175C>A	ExAC,gnomAD
rs79172651	p.Gln145Ter	stop gained	-	NC_000009.12:g.33386169G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs79172651	p.Gln145Glu	missense variant	-	NC_000009.12:g.33386169G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs748367118	p.Met147Thr	missense variant	-	NC_000009.12:g.33386162A>G	ExAC,gnomAD
rs774764353	p.Val148Gly	missense variant	-	NC_000009.12:g.33386159A>C	ExAC,gnomAD
COSM3906902	p.Val148Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33386159A>G	NCI-TCGA Cosmic
rs1396450420	p.Gly150Val	missense variant	-	NC_000009.12:g.33386153C>A	TOPMed,gnomAD
rs1396450420	p.Gly150Asp	missense variant	-	NC_000009.12:g.33386153C>T	TOPMed,gnomAD
rs144445015	p.Gly150Ser	missense variant	-	NC_000009.12:g.33386154C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144445015	p.Gly150Cys	missense variant	-	NC_000009.12:g.33386154C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756634075	p.Pro151Ser	missense variant	-	NC_000009.12:g.33386151G>A	ExAC,gnomAD
rs765077284	p.Val152Ala	missense variant	-	NC_000009.12:g.33386147A>G	ExAC,TOPMed
rs76608797	p.Val152Phe	missense variant	-	NC_000009.12:g.33386148C>A	1000Genomes,ExAC,gnomAD
rs76608797	p.Val152Ile	missense variant	-	NC_000009.12:g.33386148C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val152Leu	missense variant	-	NC_000009.12:g.33386148C>G	NCI-TCGA
rs144159502	p.Ala153Thr	missense variant	-	NC_000009.12:g.33386145C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766372675	p.Ala153Val	missense variant	-	NC_000009.12:g.33386144G>A	ExAC,gnomAD
rs760732558	p.Thr154Ile	missense variant	-	NC_000009.12:g.33386141G>A	ExAC,gnomAD
rs1355833339	p.Ile157Val	missense variant	-	NC_000009.12:g.33386133T>C	gnomAD
rs767762794	p.Pro163Arg	missense variant	-	NC_000009.12:g.33386114G>C	ExAC,gnomAD
rs762090573	p.His165Asn	missense variant	-	NC_000009.12:g.33386109G>T	ExAC,gnomAD
rs774369511	p.Met166Val	missense variant	-	NC_000009.12:g.33386106T>C	ExAC,gnomAD
COSM3433098	p.Thr167Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33386103T>A	NCI-TCGA Cosmic
rs768935081	p.Trp169Ter	stop gained	-	NC_000009.12:g.33386096C>T	ExAC,TOPMed,gnomAD
rs201415718	p.Arg170Pro	missense variant	-	NC_000009.12:g.33386093C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1412196070	p.Arg170Trp	missense variant	-	NC_000009.12:g.33386094G>A	TOPMed,gnomAD
rs201415718	p.Arg170Gln	missense variant	-	NC_000009.12:g.33386093C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775861945	p.Gly171Ser	missense variant	-	NC_000009.12:g.33386091C>T	ExAC,gnomAD
rs1397156045	p.Leu173Arg	missense variant	-	NC_000009.12:g.33386084A>C	gnomAD
rs1259886341	p.Glu175Lys	missense variant	-	NC_000009.12:g.33386079C>T	TOPMed
rs62542746	p.Ala176Glu	missense variant	-	NC_000009.12:g.33385865G>T	ExAC,TOPMed,gnomAD
rs62542746	p.Ala176Val	missense variant	-	NC_000009.12:g.33385865G>A	ExAC,TOPMed,gnomAD
rs1417317866	p.Trp177Ter	stop gained	-	NC_000009.12:g.33385861C>T	gnomAD
rs1028216797	p.Trp177Ser	missense variant	-	NC_000009.12:g.33385862C>G	TOPMed
rs1162875098	p.Leu178Pro	missense variant	-	NC_000009.12:g.33385859A>G	gnomAD
rs775225196	p.Thr179Ile	missense variant	-	NC_000009.12:g.33385856G>A	ExAC,gnomAD
rs202183465	p.Gly180Arg	missense variant	-	NC_000009.12:g.33385854C>G	ExAC,TOPMed,gnomAD
rs202183465	p.Gly180Arg	missense variant	-	NC_000009.12:g.33385854C>T	ExAC,TOPMed,gnomAD
rs757121649	p.Met181Leu	missense variant	-	NC_000009.12:g.33385851T>A	ExAC,gnomAD
rs747027644	p.Met181Ile	missense variant	-	NC_000009.12:g.33385849C>T	ExAC,TOPMed,gnomAD
rs1467746411	p.Leu182Phe	missense variant	-	NC_000009.12:g.33385848G>A	gnomAD
rs374335960	p.Cys185Ter	stop gained	-	NC_000009.12:g.33385837A>T	ESP,ExAC,TOPMed,gnomAD
rs1236362055	p.Leu186Phe	missense variant	-	NC_000009.12:g.33385836G>A	gnomAD
rs73478963	p.Ala188Thr	missense variant	-	NC_000009.12:g.33385830C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs73478963	p.Ala188Pro	missense variant	-	NC_000009.12:g.33385830C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs755227850	p.Thr190Met	missense variant	-	NC_000009.12:g.33385823G>A	ExAC,TOPMed,gnomAD
rs766822910	p.Asp191Glu	missense variant	-	NC_000009.12:g.33385819G>T	ExAC,TOPMed,gnomAD
rs62542745	p.Gln192Arg	missense variant	-	NC_000009.12:g.33385817T>C	ExAC,TOPMed,gnomAD
rs62542745	p.Gln192Pro	missense variant	-	NC_000009.12:g.33385817T>G	ExAC,TOPMed,gnomAD
rs62542744	p.Asn194Lys	missense variant	-	NC_000009.12:g.33385810G>T	ExAC,gnomAD
rs904642382	p.Asn195His	missense variant	-	NC_000009.12:g.33385809T>G	TOPMed
COSM3996519	p.Asn195Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385807G>T	NCI-TCGA Cosmic
rs767919525	p.Pro196Thr	missense variant	-	NC_000009.12:g.33385806G>T	ExAC,TOPMed,gnomAD
rs1350436935	p.Pro196Leu	missense variant	-	NC_000009.12:g.33385805G>A	gnomAD
rs762503156	p.Ala197Glu	missense variant	-	NC_000009.12:g.33385802G>T	ExAC,gnomAD
rs549789029	p.Pro199Arg	missense variant	-	NC_000009.12:g.33385796G>C	1000Genomes,gnomAD
rs775170288	p.Gly200Val	missense variant	-	NC_000009.12:g.33385793C>A	ExAC,gnomAD
COSM3926700	p.Gly200Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385793C>T	NCI-TCGA Cosmic
rs76908057	p.Glu202Gln	missense variant	-	NC_000009.12:g.33385788C>G	ExAC,gnomAD
rs114937176	p.Glu202Asp	missense variant	-	NC_000009.12:g.33385786C>G	ExAC,gnomAD
rs776278674	p.Ala203Val	missense variant	-	NC_000009.12:g.33385784G>A	ExAC
rs1163234551	p.Leu204Arg	missense variant	-	NC_000009.12:g.33385781A>C	gnomAD
rs746785282	p.Leu204Met	missense variant	-	NC_000009.12:g.33385782G>T	ExAC,gnomAD
rs201507439	p.Val205Met	missense variant	-	NC_000009.12:g.33385779C>T	gnomAD
rs777708430	p.Val205Gly	missense variant	-	NC_000009.12:g.33385778A>C	ExAC,gnomAD
rs748190708	p.Ile206Met	missense variant	-	NC_000009.12:g.33385774T>C	ExAC,TOPMed,gnomAD
rs758358831	p.Ile206Thr	missense variant	-	NC_000009.12:g.33385775A>G	ExAC,TOPMed,gnomAD
rs117663392	p.Gly207Ser	missense variant	-	NC_000009.12:g.33385773C>T	ExAC,gnomAD
RCV000455360	p.Gly207Ser	missense variant	-	NC_000009.12:g.33385773C>T	ClinVar
rs755176890	p.Leu209Phe	missense variant	-	NC_000009.12:g.33385767G>A	ExAC,TOPMed,gnomAD
rs201192248	p.Val210Leu	missense variant	-	NC_000009.12:g.33385764C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1301481920	p.Val210Ala	missense variant	-	NC_000009.12:g.33385763A>G	gnomAD
rs201192248	p.Val210Met	missense variant	-	NC_000009.12:g.33385764C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1489175259	p.Ile212Thr	missense variant	-	NC_000009.12:g.33385757A>G	gnomAD
rs1368420100	p.Ile212Leu	missense variant	-	NC_000009.12:g.33385758T>G	gnomAD
rs1297620069	p.Ile213Val	missense variant	-	NC_000009.12:g.33385755T>C	gnomAD
rs114484742	p.Gly214Arg	missense variant	-	NC_000009.12:g.33385752C>T	ExAC,TOPMed,gnomAD
rs1169041382	p.Gly214Ala	missense variant	-	NC_000009.12:g.33385751C>G	gnomAD
RCV000454721	p.Gly214Arg	missense variant	-	NC_000009.12:g.33385752C>T	ClinVar
rs768096479	p.Val215Met	missense variant	-	NC_000009.12:g.33385749C>T	ExAC,gnomAD
rs768096479	p.Val215Leu	missense variant	-	NC_000009.12:g.33385749C>A	ExAC,gnomAD
rs199936776	p.Ser216Tyr	missense variant	-	NC_000009.12:g.33385745G>T	ExAC,gnomAD
rs201773300	p.Leu217His	missense variant	-	NC_000009.12:g.33385742A>T	ExAC,gnomAD
RCV000456083	p.Leu217His	missense variant	-	NC_000009.12:g.33385742A>T	ClinVar
rs1174969247	p.Gly218Val	missense variant	-	NC_000009.12:g.33385739C>A	gnomAD
rs201117022	p.Met219Ile	missense variant	-	NC_000009.12:g.33385735C>T	ExAC,gnomAD
rs1169866396	p.Gly222Arg	missense variant	-	NC_000009.12:g.33385728C>T	TOPMed
rs776281487	p.Ala224Ser	missense variant	-	NC_000009.12:g.33385722C>A	ExAC
rs770503247	p.Ala224Val	missense variant	-	NC_000009.12:g.33385721G>A	ExAC,TOPMed,gnomAD
rs770503247	p.Ala224Asp	missense variant	-	NC_000009.12:g.33385721G>T	ExAC,TOPMed,gnomAD
rs760474263	p.Asn226Ser	missense variant	-	NC_000009.12:g.33385715T>C	ExAC,TOPMed,gnomAD
rs760474263	p.Asn226Thr	missense variant	-	NC_000009.12:g.33385715T>G	ExAC,TOPMed,gnomAD
rs138290992	p.Pro227Leu	missense variant	-	NC_000009.12:g.33385712G>A	ESP,ExAC,TOPMed,gnomAD
rs377195045	p.Ser228Phe	missense variant	-	NC_000009.12:g.33385709G>A	ESP,ExAC,TOPMed,gnomAD
rs373501318	p.Arg229Leu	missense variant	-	NC_000009.12:g.33385706C>A	ESP,ExAC,TOPMed,gnomAD
rs780270047	p.Arg229Trp	missense variant	-	NC_000009.12:g.33385707G>A	ExAC,gnomAD
rs373501318	p.Arg229Gln	missense variant	-	NC_000009.12:g.33385706C>T	ESP,ExAC,TOPMed,gnomAD
rs757823924	p.Asp230Glu	missense variant	-	NC_000009.12:g.33385702G>T	ExAC,gnomAD
rs559393989	p.Asp230Asn	missense variant	-	NC_000009.12:g.33385704C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM2150028	p.Asp230Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385703T>C	NCI-TCGA Cosmic
rs145516206	p.Leu231Pro	missense variant	-	NC_000009.12:g.33385700A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu231Met	missense variant	-	NC_000009.12:g.33385701G>T	NCI-TCGA
rs759029108	p.Pro232Thr	missense variant	-	NC_000009.12:g.33385698G>T	ExAC,TOPMed,gnomAD
rs753311168	p.Pro232Leu	missense variant	-	NC_000009.12:g.33385697G>A	ExAC,TOPMed,gnomAD
rs753311168	p.Pro232His	missense variant	-	NC_000009.12:g.33385697G>T	ExAC,TOPMed,gnomAD
rs766018958	p.Pro233Leu	missense variant	-	NC_000009.12:g.33385694G>A	ExAC,TOPMed,gnomAD
rs766018958	p.Pro233Arg	missense variant	-	NC_000009.12:g.33385694G>C	ExAC,TOPMed,gnomAD
rs139024279	p.Arg234Gly	missense variant	-	NC_000009.12:g.33385692G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139024279	p.Arg234Ser	missense variant	-	NC_000009.12:g.33385692G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369644615	p.Arg234His	missense variant	-	NC_000009.12:g.33385691C>T	1000Genomes,ESP,ExAC,TOPMed
RCV000455403	p.Arg234Ser	missense variant	-	NC_000009.12:g.33385692G>T	ClinVar
rs139024279	p.Arg234Cys	missense variant	-	NC_000009.12:g.33385692G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768599373	p.Ile235Val	missense variant	-	NC_000009.12:g.33385689T>C	ExAC,TOPMed,gnomAD
rs1423757766	p.Ile235Asn	missense variant	-	NC_000009.12:g.33385688A>T	TOPMed
NCI-TCGA novel	p.Ile235Met	missense variant	-	NC_000009.12:g.33385687G>C	NCI-TCGA
NCI-TCGA novel	p.Ile235Leu	missense variant	-	NC_000009.12:g.33385689T>G	NCI-TCGA
rs768599373	p.Ile235Phe	missense variant	-	NC_000009.12:g.33385689T>A	ExAC,TOPMed,gnomAD
rs1202534815	p.Thr237Ile	missense variant	-	NC_000009.12:g.33385682G>A	gnomAD
rs1255848704	p.Thr237Ser	missense variant	-	NC_000009.12:g.33385683T>A	gnomAD
NCI-TCGA novel	p.Ala240Thr	missense variant	-	NC_000009.12:g.33385674C>T	NCI-TCGA
rs543757751	p.Gly241Asp	missense variant	-	NC_000009.12:g.33385670C>T	1000Genomes
rs770033710	p.Gly241Ser	missense variant	-	NC_000009.12:g.33385671C>T	ExAC,gnomAD
rs1331348216	p.Gly243Ser	missense variant	-	NC_000009.12:g.33385665C>T	TOPMed,gnomAD
rs781688387	p.Gly243Asp	missense variant	-	NC_000009.12:g.33385664C>T	ExAC,gnomAD
rs751986180	p.Gln245Leu	missense variant	-	NC_000009.12:g.33385658T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln245His	missense variant	-	NC_000009.12:g.33385657C>A	NCI-TCGA
rs778376340	p.Val246Ile	missense variant	-	NC_000009.12:g.33385656C>T	ExAC,gnomAD
rs758864520	p.Phe247Cys	missense variant	-	NC_000009.12:g.33385652A>C	ExAC,TOPMed,gnomAD
rs758864520	p.Phe247Ser	missense variant	-	NC_000009.12:g.33385652A>G	ExAC,TOPMed,gnomAD
rs753362587	p.Ser248Ile	missense variant	-	NC_000009.12:g.33385649C>A	ExAC
rs74557595	p.Asn249Asp	missense variant	-	NC_000009.12:g.33385289T>C	ExAC,TOPMed,gnomAD
rs760977156	p.Gly250Arg	missense variant	-	NC_000009.12:g.33385286C>T	ExAC,gnomAD
rs773244652	p.Gly250Glu	missense variant	-	NC_000009.12:g.33385285C>T	ExAC,gnomAD
rs375356467	p.Asn252Lys	missense variant	-	NC_000009.12:g.33385278G>T	1000Genomes,ExAC,gnomAD
rs769128601	p.Trp253Leu	missense variant	-	NC_000009.12:g.33385276C>A	ExAC,TOPMed,gnomAD
rs769128601	p.Trp253Ter	stop gained	-	NC_000009.12:g.33385276C>T	ExAC,TOPMed,gnomAD
rs749852149	p.Trp254Ter	stop gained	-	NC_000009.12:g.33385273C>T	ExAC,gnomAD
rs780673396	p.Ala260Val	missense variant	-	NC_000009.12:g.33385255G>A	ExAC,TOPMed,gnomAD
rs770359710	p.Leu262Ile	missense variant	-	NC_000009.12:g.33385250G>T	ExAC,TOPMed,gnomAD
rs184118433	p.Gly264Ser	missense variant	-	NC_000009.12:g.33385244C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62542743	p.Gly264Val	missense variant	-	NC_000009.12:g.33385243C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs62542743	p.Gly264Val	missense variant	-	NC_000009.12:g.33385243C>A	UniProt,dbSNP
VAR_067255	p.Gly264Val	missense variant	-	NC_000009.12:g.33385243C>A	UniProt
RCV000023224	p.Gly264Val	missense variant	Glycerol release during exercise, defective (GLYCQTL)	NC_000009.12:g.33385243C>A	ClinVar
rs1443836887	p.Tyr266Ter	stop gained	-	NC_000009.12:g.33385236A>T	gnomAD
rs202043723	p.Tyr266Phe	missense variant	-	NC_000009.12:g.33385237T>A	ESP,ExAC,TOPMed,gnomAD
rs202043723	p.Tyr266Ser	missense variant	-	NC_000009.12:g.33385237T>G	ESP,ExAC,TOPMed,gnomAD
COSM1108328	p.Leu267Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385235G>T	NCI-TCGA Cosmic
rs561584740	p.Gly268Val	missense variant	-	NC_000009.12:g.33385231C>A	1000Genomes,ExAC,gnomAD
rs561584740	p.Gly268Asp	missense variant	-	NC_000009.12:g.33385231C>T	1000Genomes,ExAC,gnomAD
rs753896238	p.Gly269Ser	missense variant	-	NC_000009.12:g.33385229C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly269Asp	missense variant	-	NC_000009.12:g.33385228C>T	NCI-TCGA
rs753896238	p.Gly269Cys	missense variant	-	NC_000009.12:g.33385229C>A	ExAC,TOPMed,gnomAD
rs1289616046	p.Val274Ile	missense variant	-	NC_000009.12:g.33385214C>T	gnomAD
rs1289616046	p.Val274Leu	missense variant	-	NC_000009.12:g.33385214C>G	gnomAD
rs1376273760	p.Ile276Thr	missense variant	-	NC_000009.12:g.33385207A>G	TOPMed
rs766426189	p.Gly277Cys	missense variant	-	NC_000009.12:g.33385205C>A	ExAC,gnomAD
rs760785390	p.Gly277Asp	missense variant	-	NC_000009.12:g.33385204C>T	ExAC,TOPMed,gnomAD
rs370340757	p.Ser278Pro	missense variant	-	NC_000009.12:g.33385202A>G	ESP
rs190625868	p.Thr279Ile	missense variant	-	NC_000009.12:g.33385198G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1446242768	p.Ile280Met	missense variant	-	NC_000009.12:g.33385194G>C	gnomAD
rs774564666	p.Arg282Gln	missense variant	-	NC_000009.12:g.33385189C>T	ExAC,TOPMed,gnomAD
rs768393072	p.Arg282Trp	missense variant	-	NC_000009.12:g.33385190G>A	ExAC,TOPMed,gnomAD
rs763311844	p.Pro284Ala	missense variant	-	NC_000009.12:g.33385184G>C	ExAC,gnomAD
rs202003063	p.Leu285Pro	missense variant	-	NC_000009.12:g.33385180A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs770308564	p.Lys286Thr	missense variant	-	NC_000009.12:g.33385177T>G	ExAC,gnomAD
rs1219152528	p.Glu288Asp	missense variant	-	NC_000009.12:g.33385170C>A	TOPMed
rs1179941138	p.Asp289Ala	missense variant	-	NC_000009.12:g.33385168T>G	gnomAD
rs1237788650	p.Ser290Tyr	missense variant	-	NC_000009.12:g.33385165G>T	gnomAD
rs201527236	p.Ala292Val	missense variant	-	NC_000009.12:g.33385159G>A	ESP,ExAC,TOPMed,gnomAD
rs376205588	p.His296Arg	missense variant	-	NC_000009.12:g.33385147T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749112658	p.Gly297Arg	missense variant	-	NC_000009.12:g.33385145C>T	ExAC,TOPMed,gnomAD
rs780095371	p.Ile298Val	missense variant	-	NC_000009.12:g.33385142T>C	ExAC,gnomAD
rs1430363924	p.Thr299Ala	missense variant	-	NC_000009.12:g.33385139T>C	gnomAD
rs61073250	p.Val300Ile	missense variant	-	NC_000009.12:g.33385136C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432944647	p.Val300Ala	missense variant	-	NC_000009.12:g.33385135A>G	TOPMed
rs767693529	p.Pro302Leu	missense variant	-	NC_000009.12:g.33385129G>A	ExAC,gnomAD
rs757414925	p.Lys303Glu	missense variant	-	NC_000009.12:g.33385127T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys303Asn	missense variant	-	NC_000009.12:g.33385125C>G	NCI-TCGA
rs751738116	p.Met304Leu	missense variant	-	NC_000009.12:g.33385124T>A	ExAC,gnomAD
rs371523158	p.Met304Ile	missense variant	-	NC_000009.12:g.33385122C>T	ESP,ExAC,TOPMed,gnomAD
rs764313048	p.Met304Lys	missense variant	-	NC_000009.12:g.33385123A>T	ExAC,TOPMed,gnomAD
rs1249475411	p.Ser306Cys	missense variant	-	NC_000009.12:g.33385117G>C	gnomAD
rs1447342994	p.Ser306Thr	missense variant	-	NC_000009.12:g.33385118A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu308Lys	missense variant	-	NC_000009.12:g.33385112C>T	NCI-TCGA
rs541770524	p.Thr310Met	missense variant	-	NC_000009.12:g.33385105G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6183316	p.Ser312Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385099G>A	NCI-TCGA Cosmic
rs772587113	p.Thr315Ile	missense variant	-	NC_000009.12:g.33385090G>A	ExAC,TOPMed
rs1291113394	p.Pro316Ser	missense variant	-	NC_000009.12:g.33385088G>A	TOPMed,gnomAD
rs771682923	p.Pro316Leu	missense variant	-	NC_000009.12:g.33385087G>A	ExAC,gnomAD
rs199594532	p.Val317Ile	missense variant	-	NC_000009.12:g.33385085C>T	1000Genomes,TOPMed,gnomAD
rs1436024401	p.Val319Gly	missense variant	-	NC_000009.12:g.33385078A>C	gnomAD
rs201424877	p.Pro321Leu	missense variant	-	NC_000009.12:g.33385072G>A	ExAC,gnomAD
rs749056562	p.Pro321Ser	missense variant	-	NC_000009.12:g.33385073G>A	ExAC,gnomAD
rs755989154	p.Ala322Val	missense variant	-	NC_000009.12:g.33385069G>A	ExAC,gnomAD
rs745882902	p.Ser326Leu	missense variant	-	NC_000009.12:g.33385057G>A	ExAC,gnomAD
rs1245079837	p.His328Gln	missense variant	-	NC_000009.12:g.33385050G>T	TOPMed
rs78431873	p.Pro329Ser	missense variant	-	NC_000009.12:g.33385049G>A	ExAC,gnomAD
rs1168854859	p.Pro329Arg	missense variant	-	NC_000009.12:g.33385048G>C	gnomAD
rs1264739226	p.Ala330Asp	missense variant	-	NC_000009.12:g.33385045G>T	gnomAD
NCI-TCGA novel	p.Ala330Thr	missense variant	-	NC_000009.12:g.33385046C>T	NCI-TCGA
rs1192417714	p.Pro331Ser	missense variant	-	NC_000009.12:g.33385043G>A	TOPMed,gnomAD
rs199871527	p.Pro331Leu	missense variant	-	NC_000009.12:g.33385042G>A	ExAC,TOPMed,gnomAD
rs199871527	p.Pro331Arg	missense variant	-	NC_000009.12:g.33385042G>C	ExAC,TOPMed,gnomAD
rs1438298065	p.Pro332Ser	missense variant	-	NC_000009.12:g.33385040G>A	TOPMed
rs758660571	p.Pro332Leu	missense variant	-	NC_000009.12:g.33385039G>A	ExAC,TOPMed,gnomAD
COSM3906898	p.Pro332Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385040G>C	NCI-TCGA Cosmic
rs758660571	p.Pro332His	missense variant	-	NC_000009.12:g.33385039G>T	ExAC,TOPMed,gnomAD
rs1205026401	p.His334Arg	missense variant	-	NC_000009.12:g.33385033T>C	gnomAD
COSM4844937	p.Glu335Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.33385031C>A	NCI-TCGA Cosmic
COSM3656930	p.Ser336Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.33385027G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met337Val	missense variant	-	NC_000009.12:g.33385025T>C	NCI-TCGA
rs958540175	p.Ala338Ser	missense variant	-	NC_000009.12:g.33385022C>A	TOPMed
rs368432936	p.Ala338Val	missense variant	-	NC_000009.12:g.33385021G>A	ESP,ExAC,TOPMed,gnomAD
rs1229416384	p.Leu339Pro	missense variant	-	NC_000009.12:g.33385018A>G	gnomAD
rs1299353226	p.Glu340Gln	missense variant	-	NC_000009.12:g.33385016C>G	gnomAD
rs766813164	p.Ter343Glu	stop lost	-	NC_000009.12:g.33385007A>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0020456	Hyperglycemia	disease	BEFREE
C0021368	Inflammation	phenotype	LHGDN
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023893	Liver Cirrhosis, Experimental	disease	CTD_human
C0025517	Metabolic Diseases	group	BEFREE
C0028754	Obesity	disease	BEFREE;CTD_human
C0028756	Obesity, Morbid	disease	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0206682	Follicular thyroid carcinoma	disease	BEFREE
C0557874	Global developmental delay	disease	BEFREE
C1306341	Mental handicap	disease	BEFREE
C3280715	GLYCEROL QUANTITATIVE TRAIT LOCUS	phenotype	CLINVAR
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0015204	urea transmembrane transporter activity	IBA
GO:0015250	water channel activity	IDA
GO:0015254	glycerol channel activity	IDA
GO:0015254	glycerol channel activity	EXP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006833	water transport	IDA
GO:0006833	water transport	TAS
GO:0015793	glycerol transport	IDA
GO:0015793	glycerol transport	TAS
GO:0071918	urea transmembrane transport	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IDA
GO:0005811	lipid droplet	IEA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IDA
GO:0005911	cell-cell junction	IDA
GO:0005938	cell cortex	IEA
GO:0030659	cytoplasmic vesicle membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-382551	Transport of small molecules	TAS
R-HSA-432030	Transport of glycerol from adipocytes to the liver by Aquaporins	TAS
R-HSA-432047	Passive transport by Aquaporins	TAS
R-HSA-445717	Aquaporin-mediated transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of AQP7 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of AQP7 mRNA	28628672
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of AQP7 mRNA	25380136
C029141	2,2,5,7,8-pentamethyl-1-hydroxychroman	2,2,5,7,8-pentamethyl-1-hydroxychroman results in increased expression of AQP7 mRNA	21920950
C000608800	2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid	2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid results in increased expression of AQP7 mRNA	30920876
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of AQP7 mRNA	19114083
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of AQP7 mRNA	25380136
D000082	Acetaminophen	Acetaminophen results in decreased expression of AQP7 mRNA	26690555; 29067470;
D000082	Acetaminophen	Acetaminophen results in increased expression of AQP7 mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of AQP7 mRNA	22100608
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of AQP7 polyA tail	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of AQP7 mRNA	23630614
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of AQP7 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of AQP7 mRNA	30779732
C526219	apple polyphenol extract	apple polyphenol extract inhibits the reaction [[Dietary Sucrose co-treated with Dietary Fats] results in decreased methylation of AQP7 promoter]	23529981
C526219	apple polyphenol extract	[Dietary Sucrose co-treated with Dietary Fats co-treated with apple polyphenol extract] results in increased expression of AQP7 mRNA	23529981
C015001	arsenite	AQP7 protein results in increased uptake of arsenite	11972053
D001280	Atrazine	Atrazine results in increased expression of AQP7 mRNA	25929836
D001280	Atrazine	Atrazine results in increased expression of AQP7 mRNA	22378314
C547126	AZM551248	AZM551248 results in decreased expression of AQP7 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of AQP7 mRNA	22316170
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of AQP7 gene	25435355
D000077610	Bexarotene	[Bexarotene co-treated with Tamoxifen] results in increased expression of AQP7 mRNA	17630414
D000077610	Bexarotene	Bexarotene results in decreased expression of AQP7 mRNA	16648578
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of AQP7 mRNA	27685785
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of AQP7 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of AQP7 mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of AQP7 mRNA	25594700
C006780	bisphenol A	bisphenol A results in decreased expression of AQP7 mRNA	25181051
D002101	Cacodylic Acid	Cacodylic Acid results in increased expression of AQP7 mRNA	17720352
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AQP7 mRNA	20938992
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of AQP7 mRNA	27392435
C014416	citreoviridin	citreoviridin results in decreased expression of AQP7 mRNA	31419397
C014416	citreoviridin	Sodium Selenite inhibits the reaction [citreoviridin results in decreased expression of AQP7 mRNA]	31419397
C014416	citreoviridin	Thiamine inhibits the reaction [citreoviridin results in decreased expression of AQP7 mRNA]	31419397
D016572	Cyclosporine	Cyclosporine results in increased expression of AQP7 mRNA	25562108
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of AQP7 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in increased expression of AQP7 mRNA	19853017; 25047013;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of AQP7 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of AQP7 mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in increased expression of AQP7 mRNA	14618091
D003976	Diazinon	Diazinon results in decreased methylation of AQP7 gene	22964155
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of AQP7 mRNA	26924002
D004041	Dietary Fats	Dietary Fats results in decreased expression of AQP7 mRNA	18042831
D004041	Dietary Fats	Dietary Fats results in increased expression of AQP7 mRNA	18457598
D004041	Dietary Fats	apple polyphenol extract inhibits the reaction [[Dietary Sucrose co-treated with Dietary Fats] results in decreased methylation of AQP7 promoter]	23529981
D004041	Dietary Fats	[Dietary Sucrose co-treated with Dietary Fats co-treated with apple polyphenol extract] results in increased expression of AQP7 mRNA	23529981
D004041	Dietary Fats	[Dietary Sucrose co-treated with Dietary Fats] results in decreased methylation of AQP7 promoter	23529981
D019422	Dietary Sucrose	apple polyphenol extract inhibits the reaction [[Dietary Sucrose co-treated with Dietary Fats] results in decreased methylation of AQP7 promoter]	23529981
D019422	Dietary Sucrose	[Dietary Sucrose co-treated with Dietary Fats co-treated with apple polyphenol extract] results in increased expression of AQP7 mRNA	23529981
D019422	Dietary Sucrose	[Dietary Sucrose co-treated with Dietary Fats] results in decreased methylation of AQP7 promoter	23529981
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of AQP7 mRNA	24535843
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of AQP7 mRNA	19638242
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in increased expression of AQP7 mRNA	17072980; 25380136;
C024629	dimethyl phthalate	dimethyl phthalate results in decreased expression of AQP7 mRNA	26924002
D004237	Diuron	Diuron results in decreased expression of AQP7 mRNA	25152437
D004317	Doxorubicin	Doxorubicin results in decreased expression of AQP7 mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of AQP7 mRNA	29391264
D004837	Epinephrine	Epinephrine affects the localization of AQP7 protein	10777495
D004837	Epinephrine	Epinephrine results in increased expression of AQP7 mRNA	10777495
D004837	Epinephrine	INS1 inhibits the reaction [Epinephrine results in increased expression of AQP7 mRNA]	10777495
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of AQP7 mRNA	28341573
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of AQP7 protein	28341573
D004958	Estradiol	Estradiol results in increased expression of AQP7 mRNA	28341573
D004958	Estradiol	[Quercetin co-treated with Estradiol] affects the expression of AQP7 protein	28341573
D004958	Estradiol	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 mRNA]	28341573
D004958	Estradiol	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 protein]	28341573
D004958	Estradiol	Quercetin promotes the reaction [Estradiol results in increased expression of AQP7 mRNA]	28341573
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AQP7 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of AQP7 mRNA	23129252
D017313	Fenretinide	Fenretinide results in decreased expression of AQP7 mRNA	28973697
D005419	Flavonoids	Flavonoids results in increased expression of AQP7 mRNA	18035473
D005485	Flutamide	Flutamide results in decreased expression of AQP7 mRNA	24793618
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AQP7 mRNA	20938992
C039281	furan	furan results in increased expression of AQP7 mRNA	25539665
D005990	Glycerol	AQP7 protein affects the metabolism of Glycerol	19840149
D005990	Glycerol	AQP7 protein results in increased transport of Glycerol	9252401
D005990	Glycerol	AQP7 protein results in increased uptake of Glycerol	19585522
D005990	Glycerol	AQP7 protein results in increased transport of Glycerol	9514918
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of AQP7 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of AQP7 mRNA	28628672
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of AQP7 mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in increased expression of AQP7 mRNA	30851411
D008623	Mercaptoethanol	Mercaptoethanol inhibits the reaction [Mercuric Chloride results in decreased activity of AQP7 protein]	10777495
D008627	Mercuric Chloride	Mercaptoethanol inhibits the reaction [Mercuric Chloride results in decreased activity of AQP7 protein]	10777495
D008627	Mercuric Chloride	Mercuric Chloride results in decreased activity of AQP7 protein	10777495
D008627	Mercuric Chloride	Mercuric Chloride results in decreased expression of AQP7 protein	25854323
D008687	Metformin	Metformin results in increased expression of AQP7 mRNA	31324951
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of AQP7 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of AQP7 protein	25854323
D020105	Milrinone	Milrinone results in decreased expression of AQP7 mRNA	22936366
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of AQP7 mRNA	26924002
C500085	muraglitazar	muraglitazar results in increased expression of AQP7 mRNA	21515302
D009532	Nickel	Nickel results in decreased expression of AQP7 mRNA	25583101
C028007	nickel monoxide	nickel monoxide results in decreased expression of AQP7 mRNA	19167457
C572573	N-nitroso-tris-chloroethylurea	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of AQP7 mRNA	27935865
D000073878	Palm Oil	Palm Oil results in decreased expression of AQP7 mRNA	18042831
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of AQP7 mRNA	19162173
D010629	Phenformin	Phenformin results in increased expression of AQP7 mRNA	31324951
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in increased expression of AQP7 mRNA	24535843
C047088	phenylamil	phenylamil results in increased expression of AQP7 mRNA	20519739
C047088	phenylamil	PPARG protein promotes the reaction [phenylamil results in increased expression of AQP7 mRNA]	20519739
D000077205	Pioglitazone	[N-nitroso-tris-chloroethylurea co-treated with Pioglitazone] results in decreased expression of AQP7 mRNA	27935865
C006253	pirinixic acid	pirinixic acid results in increased expression of AQP7 mRNA	18301758; 20813756;
C006253	pirinixic acid	pirinixic acid results in increased expression of AQP7 mRNA	19162173; 22484513;
D010936	Plant Extracts	Plant Extracts results in decreased expression of AQP7 mRNA	23557933
D028321	Plant Preparations	Plant Preparations results in increased expression of AQP7 mRNA	26945725
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of AQP7 mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of AQP7 mRNA	28341573
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of AQP7 protein	28341573
D011374	Progesterone	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 mRNA]	28341573
D011374	Progesterone	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 protein]	28341573
D011794	Quercetin	[Quercetin co-treated with Estradiol] affects the expression of AQP7 protein	28341573
D011794	Quercetin	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 mRNA]	28341573
D011794	Quercetin	Quercetin inhibits the reaction [[Estradiol co-treated with Progesterone] results in increased expression of AQP7 protein]	28341573
D011794	Quercetin	Quercetin promotes the reaction [Estradiol results in increased expression of AQP7 mRNA]	28341573
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of AQP7 mRNA	21515302
C017947	sodium arsenite	sodium arsenite results in decreased expression of AQP7 mRNA	29301061
C016104	sodium bichromate	sodium bichromate results in decreased expression of AQP7 mRNA	22561333
C016104	sodium bichromate	sodium bichromate results in increased expression of AQP7 mRNA	25993096
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of AQP7 protein	28918527
D018038	Sodium Selenite	Sodium Selenite inhibits the reaction [citreoviridin results in decreased expression of AQP7 mRNA]	31419397
D018038	Sodium Selenite	Sodium Selenite results in increased expression of AQP7 mRNA	31419397
D013311	Streptozocin	Streptozocin results in increased expression of AQP7 mRNA	16684804
D013311	Streptozocin	vanadyl sulfate inhibits the reaction [Streptozocin results in increased expression of AQP7 mRNA]	16684804
C061133	tamibarotene	tamibarotene affects the expression of AQP7 mRNA	15498508
D013629	Tamoxifen	[Bexarotene co-treated with Tamoxifen] results in increased expression of AQP7 mRNA	17630414
C501413	tesaglitazar	tesaglitazar results in increased expression of AQP7 mRNA	21515302
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of AQP7 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AQP7 mRNA	17942748
D013831	Thiamine	Thiamine inhibits the reaction [citreoviridin results in decreased expression of AQP7 mRNA]	31419397
D013831	Thiamine	Thiamine results in increased expression of AQP7 mRNA	31419397
D013853	Thioacetamide	Thioacetamide results in increased expression of AQP7 mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in increased expression of AQP7 mRNA	23557971
D014212	Tretinoin	Tretinoin affects the expression of AQP7 mRNA	15498508
D014260	Triclosan	Triclosan results in increased expression of AQP7 mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of AQP7 mRNA	26743178
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of AQP7 mRNA	26179874
D000077288	Troglitazone	Troglitazone results in increased expression of AQP7 mRNA	12732648
D000077288	Troglitazone	Troglitazone results in increased expression of AQP7 mRNA	21515302
D000077288	Troglitazone	[TNF protein co-treated with Troglitazone] results in decreased expression of AQP7 mRNA	12732648
D014508	Urea	AQP7 protein results in increased transport of Urea	9252401
D014508	Urea	AQP7 protein results in increased uptake of Urea	19585522
D014635	Valproic Acid	Valproic Acid results in increased methylation of AQP7 gene	29154799
C034028	vanadyl sulfate	vanadyl sulfate inhibits the reaction [Streptozocin results in increased expression of AQP7 mRNA]	16684804
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of AQP7 gene	25560391
D014867	Water	AQP7 protein affects the transport of Water	18059526
D014867	Water	AQP7 protein results in increased transport of Water	9252401

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0963	Cytoplasm
KW-0968	Cytoplasmic vesicle
KW-0551	Lipid droplet
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR023271	Aquaporin-like
IPR000425	MIP

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00230	MIP