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.H29Q

c.87C>G

Surrounding Variants

1 paper

NM_002192.4

p.H29Q

c.87C>A

1 paper

NM_002192.4

p.H29L

c.86A>T

1 paper

NM_002192.4

p.A31P

c.91G>C

1 paper

NM_002192.4

p.E27K

c.79G>A

1 paper

NM_002192.4

p.P36L

c.107C>T

1 paper

NM_002192.4

p.S20T

c.59G>C

2 papers

NM_002192.4

p.A39delFs

c.116_117delCG

1 paper

NM_002192.4

p.A42T

c.124G>A

1 paper

NM_002192.4

p.P44fs

c.130_131fs

2 papers

NM_002192.4

p.K45R

c.134A>G

1 paper

NM_002192.4

p.L11F

c.33G>T

1 paper

NM_002192.4

p.L11F

c.33G>C