Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.G45R

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
4 papers
NM_000490.5
p.G45R
c.133G>C
Surrounding Variants
6 papers
NM_000490.5
p.G45C
c.133G>T
2 papers
NM_000490.5
p.G45S
c.133G>A
2 papers
NM_000490.5
p.C44W
c.132C>G
2 papers
NM_000490.5
p.C44*
c.132C>A
4 papers
NM_000490.5
p.P43A
c.127C>G
3 papers
NM_000490.5
p.G48V
c.143G>T
3 papers
NM_000490.5
p.C41W
c.123C>G
2 papers
NM_000490.5
p.K49N
c.147A>T
6 papers
NM_000490.5
p.Q40_C41Splc
c.121-2A>G
3 papers
NM_000490.5
p.R51C
c.151C>T
2 papers
NM_000490.5
p.R51fs
c.151_152fs
5 papers
NM_000490.5
p.C52R
c.154T>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."