Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.S101_S103delFs

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.S101_S103delFs
c.301_307del7
Surrounding Variants
3 papers
NM_031479.5
p.D100Splc
c.299-1G>C
1 paper
NM_031479.5
p.D100Splc
c.299-2A>G
1 paper
NM_031479.5
p.S103_A104insCAC
c.307_311ins9
1 paper
NM_031479.5
p.H112Y
c.334C>T
1 paper
NM_031479.5
p.L113P
c.338T>C
1 paper
NM_031479.5
p.P116S
c.346C>T
2 papers
NM_031479.5
p.L128V
c.382C>G
1 paper
NM_031479.5
p.L131F
c.391C>T
2 papers
NM_031479.5
p.T133I
c.398C>T
1 paper
NM_031479.5
p.L134F
c.400C>T
1 paper
NM_031479.5
p.L138P
c.413T>C
1 paper
NM_031479.5
p.C139_L140delFs
c.417_420del4
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