Varaico: Literature-Extracted Genetic Variants

Gene:INHBA

INHBA

167 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 a subunit of the dimeric activi...

Pfam Domains

TGFb_propeptideaa 49–295UCSCTGF-beta propeptide
TGF_betaaa 320–425UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit beta A

HGNC Previous Names

inhibin, beta A (activin A, activin AB alpha polypeptide); inhibin, beta A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 172 variants
9 papers
NM_002192.4
p.R229Q
c.686G>A
5 papers
NM_002192.4
p.G344G
c.1032C>T
3 papers
NM_002192.4
p.R298Q
c.893G>A
2 papers
NM_002192.4
p.A39delFs
c.116_117delCG
2 papers
NM_002192.4
p.K45R
c.134A>G
2 papers
NM_002192.4
p.K59N
c.177G>T
2 papers
NM_002192.4
p.K59N
c.177G>C
2 papers
NM_002192.4
p.R88delFs
c.262_263delCT
2 papers
NM_002192.4
p.L116_M117del2
c.346_350del6
2 papers
NM_002192.4
p.T135M
c.404C>T
2 papers
NM_002192.4
p.R174C
c.520C>T
2 papers
NM_002192.4
p.P182R
c.545C>G
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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."