Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L312S

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
15 papers
NM_000054.7
p.L312S
c.935T>C
Surrounding Variants
17 papers
NM_000054.7
p.L312*
c.935T>A
1 paper
NM_000054.7
p.L312delFs
c.934delT
2 papers
NM_000054.7
p.L313R
c.938T>G
12 papers
NM_000054.7
p.M311V
c.931A>G
1 paper
NM_000054.7
p.L310insFs
c.929_930insC
1 paper
NM_000054.7
p.L310delFs
c.930delC
1 paper
NM_000054.7
p.L310V
c.928C>G
2 papers
NM_000054.7
p.L310F
c.928C>T
1 paper
NM_000054.7
p.L310fs
c.928_929fs
1 paper
NM_000054.7
p.L309_L310insFs
c.927_928insT
14 papers
NM_000054.7
p.S315R
c.943A>C
7 papers
NM_000054.7
p.L309L
c.927A>G
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