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.S216G

c.646A>G

Surrounding Variants

1 paper

NM_002192.4

p.W218C

c.654G>T

1 paper

NM_002192.4

p.W218C

c.654G>C

1 paper

NM_002192.4

p.V211A

c.632T>C

1 paper

NM_002192.4

p.L204Q

c.611T>A

9 papers

NM_002192.4

p.R229Q

c.686G>A

1 paper

NM_002192.4

p.F221_L230del0

c.661_690del30

2 papers

NM_002192.4

p.E200D

c.600G>T

2 papers

NM_002192.4

p.E200D

c.600G>C

1 paper

NM_002192.4

p.E200K

c.598G>A

2 papers

NM_002192.4

p.E194K

c.580G>A

1 paper

NM_002192.4

p.E193K

c.577G>A

1 paper

NM_002192.4

p.A192G

c.575C>G