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.A164D

c.491C>A

Surrounding Variants

1 paper

NM_002192.4

p.A164A

c.492C>A

1 paper

NM_002192.4

p.V161D

c.482T>A

1 paper

NM_002192.4

p.T167delFs

c.501delG

1 paper

NM_002192.4

p.K160R

c.479A>G

1 paper

NM_002192.4

p.R168S

c.504G>T

1 paper

NM_002192.4

p.R168fs

c.502_503fs

1 paper

NM_002192.4

p.R168S

c.504G>C

1 paper

NM_002192.4

p.F158L

c.474C>G

1 paper

NM_002192.4

p.F158L

c.474C>A

1 paper

NM_002192.4

p.F158L

c.472T>C

1 paper

NM_002192.4

p.W156*

c.468G>A

1 paper

NM_002192.4

p.W156*

c.467G>A