Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.G54R

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
8 papers
NM_000490.5
p.G54R
c.160G>A
Surrounding Variants
8 papers
NM_000490.5
p.G54R
c.160G>C
3 papers
NM_000490.5
p.G54V
c.161G>T
3 papers
NM_000490.5
p.G54E
c.161G>A
1 paper
NM_000490.5
p.C52_G54del3
c.154_161del9
4 papers
NM_000490.5
p.P55L
c.164C>T
1 paper
NM_000490.5
p.P55R
c.164C>G
4 papers
NM_000490.5
p.P55H
c.164C>A
1 paper
NM_000490.5
p.C52S
c.155G>C
5 papers
NM_000490.5
p.C52R
c.154T>C
1 paper
NM_000490.5
p.C52S
c.154T>A
1 paper
NM_000490.5
p.S56G
c.166A>G
2 papers
NM_000490.5
p.R51fs
c.151_152fs
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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."