Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A9Splc

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.A9Splc
c.26-2A>G
Surrounding Variants
1 paper
NM_000054.7
p.A9Splc
c.26-2A>C
1 paper
NM_000054.7
p.A9Splc
c.26-1G>A
1 paper
NM_000054.7
p.A9A
c.27T>A
1 paper
NM_000054.7
p.V10M
c.28G>A
1 paper
NM_000054.7
p.V10L
c.28G>C
1 paper
NM_000054.7
p.V10L
c.28G>T
2 papers
NM_000054.7
p.A9Splc
c.26-6T>G
1 paper
NM_000054.7
p.A9_S18delFs
c.27_54del28
1 paper
NM_000054.7
p.V10E
c.29T>A
1 paper
NM_000054.7
p.V10A
c.29T>C
1 paper
NM_000054.7
p.V10G
c.29T>G
1 paper
NM_000054.7
p.P11T
c.31C>A
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