Varaico: Literature-Extracted Genetic Variants

Gene:INHBC
Variant:p.V82delFs

INHBC

35 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 homodimeric and he...

Pfam Domains

TGF_betaaa 246–351UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit beta C

HGNC Previous Name

inhibin, beta C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005538.4
p.V82delFs
c.246delC
Surrounding Variants
1 paper
NM_005538.4
p.V82fs
c.244_245fs
1 paper
NM_005538.4
p.G81R
c.241G>A
1 paper
NM_005538.4
p.G81R
c.241G>C
1 paper
NM_005538.4
p.H80H
c.240C>T
1 paper
NM_005538.4
p.S100N
c.299G>A
1 paper
NM_005538.4
p.H56N
c.166C>A
1 paper
NM_005538.4
p.S50I
c.149G>T
1 paper
NM_005538.4
p.L46V
c.136C>G
1 paper
NM_005538.4
p.C29Y
c.86G>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."