Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L316F

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.L316F
c.946C>T
Surrounding Variants
14 papers
NM_000054.7
p.S315R
c.945C>A
14 papers
NM_000054.7
p.S315R
c.945C>G
3 papers
NM_000054.7
p.L316R
c.947T>G
1 paper
NM_000054.7
p.L316L
c.948C>A
1 paper
NM_000054.7
p.S315I
c.944G>T
14 papers
NM_000054.7
p.S315R
c.943A>C
1 paper
NM_000054.7
p.S315C
c.943A>T
6 papers
NM_000054.7
p.N317S
c.950A>G
15 papers
NM_000054.7
p.N317K
c.951C>A
15 papers
NM_000054.7
p.N317K
c.951C>G
2 papers
NM_000054.7
p.S318T
c.953G>C
2 papers
NM_000054.7
p.L313R
c.938T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."