Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R344Q

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.R344Q
c.1031G>A
Surrounding Variants
1 paper
NM_000054.7
p.R344G
c.1030C>G
1 paper
NM_000054.7
p.R344W
c.1030C>T
1 paper
NM_000054.7
p.G345*
c.1033G>T
1 paper
NM_000054.7
p.R346S
c.1036C>A
1 paper
NM_000054.7
p.R346C
c.1036C>T
1 paper
NM_000054.7
p.C342*
c.1026T>A
1 paper
NM_000054.7
p.C342Y
c.1025G>A
5 papers
NM_000054.7
p.C342S
c.1025G>C
1 paper
NM_000054.7
p.C342F
c.1025G>T
5 papers
NM_000054.7
p.C342S
c.1024T>A
2 papers
NM_000054.7
p.T347A
c.1039A>G
1 paper
NM_000054.7
p.C341*
c.1023C>A
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