Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A42P

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.A42P
c.124G>C
Surrounding Variants
1 paper
NM_000054.7
p.A42T
c.124G>A
1 paper
NM_000054.7
p.A42insFs
c.124_125ins4
1 paper
NM_000054.7
p.A42S
c.124G>T
1 paper
NM_000054.7
p.A42E
c.125C>A
1 paper
NM_000054.7
p.A42G
c.125C>G
1 paper
NM_000054.7
p.A42V
c.125C>T
1 paper
NM_000054.7
p.L41Q
c.122T>A
1 paper
NM_000054.7
p.L41P
c.122T>C
1 paper
NM_000054.7
p.L41R
c.122T>G
1 paper
NM_000054.7
p.L41M
c.121C>A
1 paper
NM_000054.7
p.L43M
c.127C>A
1 paper
NM_000054.7
p.L41V
c.121C>G
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