Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A72E

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.A72E
c.215C>A
Surrounding Variants
1 paper
NM_000054.7
p.A72G
c.215C>G
1 paper
NM_000054.7
p.A72V
c.215C>T
2 papers
NM_000054.7
p.A72T
c.214G>A
1 paper
NM_000054.7
p.A72S
c.214G>T
1 paper
NM_000054.7
p.P73T
c.217C>A
1 paper
NM_000054.7
p.P73A
c.217C>G
1 paper
NM_000054.7
p.P73S
c.217C>T
22 papers
NM_000054.7
p.W71*
c.213G>A
1 paper
NM_000054.7
p.W71C
c.213G>C
1 paper
NM_000054.7
p.W71C
c.213G>T
1 paper
NM_000054.7
p.P73R
c.218C>G
1 paper
NM_000054.7
p.P73L
c.218C>T
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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."