Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.H214_Q215delFs

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.H214_Q215delFs
c.640_644del5
Surrounding Variants
1 paper
NM_031479.5
p.Q216delFs
c.647delA
1 paper
NM_031479.5
p.P217S
c.649C>T
1 paper
NM_031479.5
p.L209insFs
c.625_626insTG
1 paper
NM_031479.5
p.R207G
c.619C>G
8 papers
NM_031479.5
p.R206K
c.617G>A
1 paper
NM_031479.5
p.R206T
c.617G>C
1 paper
NM_031479.5
p.P205delFs
c.613delC
1 paper
NM_031479.5
p.R224delFs
c.670delC
1 paper
NM_031479.5
p.G203R
c.607G>A
1 paper
NM_031479.5
p.R224fs
c.670_671fs
1 paper
NM_031479.5
p.R224*
c.670C>T
1 paper
NM_031479.5
p.T202N
c.605C>A
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