Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C58S

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
2 papers
NM_000490.5
p.C58S
c.172T>A
Surrounding Variants
4 papers
NM_000490.5
p.C58F
c.173G>T
3 papers
NM_000490.5
p.C58S
c.173G>C
1 paper
NM_000490.5
p.C58Y
c.173G>A
4 papers
NM_000490.5
p.C59R
c.175T>C
5 papers
NM_000490.5
p.C59Y
c.176G>A
1 paper
NM_000490.5
p.S56G
c.166A>G
1 paper
NM_000490.5
p.A60V
c.179C>T
2 papers
NM_000490.5
p.C59_A60del1
c.177_179delGCG
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.C52_G54del3
c.154_161del9
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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."