Varaico: Literature-Extracted Genetic Variants

Gene:INHBE
Variant:p.Y253*

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
2 papers
NM_031479.5
p.Y253*
c.759C>G
Surrounding Variants
2 papers
NM_031479.5
p.Y253*
c.759C>A
1 paper
NM_031479.5
p.Y253N
c.757T>A
1 paper
NM_031479.5
p.D251D
c.753C>T
1 paper
NM_031479.5
p.F256I
c.766T>A
1 paper
NM_031479.5
p.D251fs
c.751_752fs
1 paper
NM_031479.5
p.R250delFs
c.750delA
1 paper
NM_031479.5
p.Q257insFs
c.771dupG
1 paper
NM_031479.5
p.R250*
c.748C>T
1 paper
NM_031479.5
p.C248delFs
c.743_744delGC
1 paper
NM_031479.5
p.W261*
c.782G>A
1 paper
NM_031479.5
p.D263E
c.789C>A
1 paper
NM_031479.5
p.E241K
c.721G>A
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