Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.K367Q

AVPR2

565 papers

RefSeq Summary

This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus...

Pfam Domains

7tm_1aa 54–325UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

arginine vasopressin receptor 2

HGNC Previous Symbols

DIR3; DIR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000054.7
p.K367Q
c.1099A>C
Surrounding Variants
1 paper
NM_000054.7
p.K367R
c.1100A>G
3 papers
NM_000054.7
p.A366S
c.1096G>T
1 paper
NM_000054.7
p.T369_S370insT
c.1105_1109ins3
1 paper
NM_000054.7
p.T369A
c.1105A>G
1 paper
NM_000054.7
p.S364C
c.1091C>G
6 papers
NM_000054.7
p.S364A
c.1090T>G
10 papers
NM_000054.7
p.S363A
c.1087T>G
1 paper
NM_000054.7
p.S371*
c.1112C>A
1 paper
NM_000054.7
p.S362C
c.1084A>T
1 paper
NM_000054.7
p.A361T
c.1081G>A
6 papers
NM_000054.7
p.T360A
c.1078A>G
4 papers
NM_000054.7
p.T359A
c.1075A>G
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