Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.H75L

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.H75L
c.224A>T
Surrounding Variants
1 paper
NM_000054.7
p.H75P
c.224A>C
1 paper
NM_000054.7
p.H75R
c.224A>G
1 paper
NM_000054.7
p.H75delFs
c.225delC
2 papers
NM_000054.7
p.H75N
c.223C>A
1 paper
NM_000054.7
p.H75Q
c.225C>A
1 paper
NM_000054.7
p.H75D
c.223C>G
1 paper
NM_000054.7
p.H75Q
c.225C>G
1 paper
NM_000054.7
p.H75Y
c.223C>T
1 paper
NM_000054.7
p.I74I
c.222A>C
1 paper
NM_000054.7
p.I74M
c.222A>G
1 paper
NM_000054.7
p.I74I
c.222A>T
1 paper
NM_000054.7
p.V76L
c.226G>C
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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."