Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.V344A

INHBE

325 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 an inhibin beta subunit. Inhibi...

Pfam Domains

TGF_betaaa 246–349UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit beta E

HGNC Alias Symbols

activin; MGC4638

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031479.5
p.V344A
c.1031T>C
Surrounding Variants
1 paper
NM_031479.5
p.A346A
c.1038C>T
1 paper
NM_031479.5
p.C347R
c.1039T>C
2 papers
NM_031479.5
p.C347Y
c.1040G>A
1 paper
NM_031479.5
p.G348S
c.1042G>A
1 paper
NM_031479.5
p.P340L
c.1019C>T
1 paper
NM_031479.5
p.*351Y
c.1053G>C
1 paper
NM_031479.5
p.N333Y
c.997A>T
1 paper
NM_031479.5
p.L323fs
c.967_968fs
1 paper
NM_031479.5
p.L323delFs
c.968delT
1 paper
NM_031479.5
p.R320R
c.958C>A
1 paper
NM_031479.5
p.R320*
c.958C>T
1 paper
NM_031479.5
p.T318delFs
c.953delC
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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."