Varaico: Literature-Extracted Genetic Variants

INHBA

167 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 the dimeric activi...

Pfam Domains

TGFb_propeptideaa 49–295UCSCTGF-beta propeptide

TGF_betaaa 320–425UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit beta A

HGNC Previous Names

inhibin, beta A (activin A, activin AB alpha polypeptide); inhibin, beta A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002192.4

p.G251D

c.752G>A

Surrounding Variants

1 paper

NM_002192.4

p.A252T

c.754G>A

1 paper

NM_002192.4

p.E249G

c.746A>G

1 paper

NM_002192.4

p.V255F

c.763G>T

1 paper

NM_002192.4

p.C244Y

c.731G>A

2 papers

NM_002192.4

p.K260insFs

c.778_779insA

2 papers

NM_002192.4

p.K262_K263del1

c.786_788delTTC

2 papers

NM_002192.4

p.K262_K263del2

c.784_788del6

1 paper

NM_002192.4

p.E265fs

c.793_794fs

1 paper

NM_002192.4

p.G267E

c.800G>A

1 paper

NM_002192.4

p.G269E

c.806G>A

1 paper

NM_002192.4

p.F221_L230del0

c.661_690del30

1 paper

NM_002192.4

p.K272N

c.816G>T