Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.I46V

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.I46V
c.136A>G
Surrounding Variants
1 paper
NM_000054.7
p.I46L
c.136A>C
1 paper
NM_000054.7
p.I46L
c.136A>T
1 paper
NM_000054.7
p.I46fs
c.136_137fs
1 paper
NM_000054.7
p.I46delFs
c.136_137delAT
7 papers
NM_000054.7
p.I46K
c.137T>A
1 paper
NM_000054.7
p.I46T
c.137T>C
1 paper
NM_000054.7
p.I46R
c.137T>G
1 paper
NM_000054.7
p.I46M
c.138A>G
1 paper
NM_000054.7
p.S45Y
c.134C>A
1 paper
NM_000054.7
p.S45C
c.134C>G
1 paper
NM_000054.7
p.S45F
c.134C>T
2 papers
NM_000054.7
p.S45_I46delFs
c.135_136delCA
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