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.P182L

c.545C>T

Surrounding Variants

2 papers

NM_002192.4

p.P182R

c.545C>G

1 paper

NM_002192.4

p.Q183R

c.548A>G

1 paper

NM_002192.4

p.G184insFs

c.550_551ins7

1 paper

NM_002192.4

p.K180delFs

c.539delT

1 paper

NM_002192.4

p.G184D

c.551G>A

1 paper

NM_002192.4

p.G184fs

c.550_551fs

1 paper

NM_002192.4

p.Q179L

c.536A>T

1 paper

NM_002192.4

p.Q179P

c.536A>C

1 paper

NM_002192.4

p.Q178Q

c.534G>A

1 paper

NM_002192.4

p.Q177*

c.529C>T

1 paper

NM_002192.4

p.G189R

c.565G>A

2 papers

NM_002192.4

p.R174C

c.520C>T