Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C112F

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
2 papers
NM_000054.7
p.C112F
c.335G>T
Surrounding Variants
5 papers
NM_000054.7
p.C112Y
c.335G>A
6 papers
NM_000054.7
p.C112S
c.335G>C
6 papers
NM_000054.7
p.C112S
c.334T>A
1 paper
NM_000054.7
p.C112*
c.336T>A
14 papers
NM_000054.7
p.C112R
c.334T>C
1 paper
NM_000054.7
p.C112G
c.334T>G
1 paper
NM_000054.7
p.C112W
c.336T>G
1 paper
NM_000054.7
p.R113G
c.337C>G
47 papers
NM_000054.7
p.R113W
c.337C>T
2 papers
NM_000054.7
p.R113delFs
c.338delG
1 paper
NM_000054.7
p.L111L
c.333G>A
2 papers
NM_000054.7
p.R113Q
c.338G>A
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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."