Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.E78G

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
5 papers
NM_000490.5
p.E78G
c.233A>G
Surrounding Variants
1 paper
NM_000490.5
p.E78D
c.234G>T
1 paper
NM_000490.5
p.E78D
c.234G>C
4 papers
NM_000490.5
p.E78K
c.232G>A
8 papers
NM_000490.5
p.E78del1
c.232_234delCTC
1 paper
NM_000490.5
p.L81L
c.241C>T
6 papers
NM_000490.5
p.L81P
c.242T>C
1 paper
NM_000490.5
p.C75S
c.224G>C
1 paper
NM_000490.5
p.C75Y
c.224G>A
1 paper
NM_000490.5
p.P82L
c.245C>T
1 paper
NM_000490.5
p.L73P
c.218T>C
3 papers
NM_000490.5
p.P84L
c.251C>T
3 papers
NM_000490.5
p.A72E
c.215C>A
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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."