Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.R97C

AVP

232 papers

RefSeq Summary

This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone...

Pfam Domains

Hormone_4aa 20–28UCSCNeurohypophysial hormones, N-terminal Domain
Hormone_5aa 39–116UCSCNeurohypophysial hormones, C-terminal Domain

Gene Aliases

HGNC Name

arginine vasopressin

HGNC Previous Symbol

ARVP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_000490.5
p.R97C
c.289C>T
Surrounding Variants
1 paper
NM_000490.5
p.R97G
c.289C>G
4 papers
NM_000490.5
p.R97P
c.290G>C
8 papers
NM_000490.5
p.G96V
c.287G>T
7 papers
NM_000490.5
p.G96D
c.287G>A
6 papers
NM_000490.5
p.C98G
c.292T>G
6 papers
NM_000490.5
p.C98S
c.292T>A
6 papers
NM_000490.5
p.G96C
c.286G>T
1 paper
NM_000490.5
p.C98insFs
c.293_294insC
5 papers
NM_000490.5
p.C98S
c.293G>C
19 papers
NM_000490.5
p.C98*
c.294C>A
3 papers
NM_000490.5
p.A99P
c.295G>C
3 papers
NM_000490.5
p.A100P
c.298G>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."