Varaico: Literature-Extracted Genetic Variants

Gene:INHA
Variant:p.A330V

INHA

175 papers

RefSeq Summary

This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, incl...

Pfam Domains

TGF_betaaa 261–365UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit alpha

HGNC Previous Name

inhibin, alpha

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002191.4
p.A330V
c.989C>T
Surrounding Variants
1 paper
NM_002191.4
p.P332delFs
c.995delC
1 paper
NM_002191.4
p.G333insFs
c.997dupG
1 paper
NM_002191.4
p.Q325Q
c.975G>A
1 paper
NM_002191.4
p.Q325R
c.974A>G
1 paper
NM_002191.4
p.V340L
c.1018G>C
1 paper
NM_002191.4
p.S319C
c.956C>G
1 paper
NM_002191.4
p.T342S
c.1024A>T
1 paper
NM_002191.4
p.T342S
c.1025C>G
1 paper
NM_002191.4
p.S344L
c.1031C>T
1 paper
NM_002191.4
p.P308S
c.922C>T
1 paper
NM_002191.4
p.P308fs
c.922_923fs
1 paper
NM_002191.4
p.P308delFs
c.923delC
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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."