Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S263*

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.S263*
c.788C>A
Surrounding Variants
1 paper
NM_000054.7
p.S263*
c.788C>G
1 paper
NM_000054.7
p.S263L
c.788C>T
1 paper
NM_000054.7
p.V262_S263insFs
c.786_787insT
2 papers
NM_000054.7
p.V262delFs
c.786delG
1 paper
NM_000054.7
p.V262M
c.784G>A
1 paper
NM_000054.7
p.V262insFs
c.785_786insT
1 paper
NM_000054.7
p.V262delFs
c.784delG
1 paper
NM_000054.7
p.A265V
c.794C>T
4 papers
NM_000054.7
p.A260_H261insFs
c.780_781insA
2 papers
NM_000054.7
p.V266L
c.796G>C
8 papers
NM_000054.7
p.V266A
c.797T>C
1 paper
NM_000054.7
p.A267T
c.799G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."