Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S167insFs

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.S167insFs
c.499_500insTC
Surrounding Variants
31 papers
NM_000054.7
p.S167T
c.499T>A
6 papers
NM_000054.7
p.S167A
c.499T>G
6 papers
NM_000054.7
p.S167*
c.500C>A
3 papers
NM_000054.7
p.S167W
c.500C>G
47 papers
NM_000054.7
p.S167L
c.500C>T
2 papers
NM_000054.7
p.S167_L168insFs
c.501_502insC
2 papers
NM_000054.7
p.F166_S167insFs
c.498_499insTC
1 paper
NM_000054.7
p.L168R
c.503T>G
10 papers
NM_000054.7
p.A165D
c.494C>A
2 papers
NM_000054.7
p.A165P
c.493G>C
4 papers
NM_000054.7
p.W164*
c.492G>A
3 papers
NM_000054.7
p.W164C
c.492G>C
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