Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.S18del1

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.S18del1
c.52_54delGGA
Surrounding Variants
17 papers
NM_000490.5
p.A19T
c.55G>A
10 papers
NM_000490.5
p.A19V
c.56C>T
2 papers
NM_000490.5
p.S17F
c.50C>T
1 paper
NM_000490.5
p.S17Y
c.50C>A
11 papers
NM_000490.5
p.Y21H
c.61T>C
2 papers
NM_000490.5
p.Y21C
c.62A>G
4 papers
NM_000490.5
p.Y21S
c.62A>C
1 paper
NM_000490.5
p.Q23E
c.67C>G
3 papers
NM_000490.5
p.F22del1
c.64_65delGAA
1 paper
NM_000490.5
p.G12insFs
c.35_36insG
1 paper
NM_000490.5
p.G12V
c.35G>T
13 papers
NM_000490.5
p.P26L
c.77C>T
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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."