Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.I276L

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.I276L
c.826A>C
Surrounding Variants
1 paper
NM_000054.7
p.I276V
c.826A>G
12 papers
NM_000054.7
p.V277A
c.830T>C
9 papers
NM_000054.7
p.V279del1
c.835_836delGTC
5 papers
NM_000054.7
p.L274P
c.821T>C
1 paper
NM_000054.7
p.L274V
c.820C>G
14 papers
NM_000054.7
p.T273M
c.818C>T
2 papers
NM_000054.7
p.T273A
c.817A>G
1 paper
NM_000054.7
p.V279I
c.835G>A
1 paper
NM_000054.7
p.M272I
c.816G>A
1 paper
NM_000054.7
p.M272I
c.816G>C
1 paper
NM_000054.7
p.M272I
c.816G>T
1 paper
NM_000054.7
p.Y280insFs
c.838_839insT
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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."