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.K413N

c.1239G>C

Surrounding Variants

1 paper

NM_002192.4

p.K413N

c.1239G>T

1 paper

NM_002192.4

p.D414N

c.1240G>A

1 paper

NM_002192.4

p.N417K

c.1251C>G

1 paper

NM_002192.4

p.N417K

c.1251C>A

1 paper

NM_002192.4

p.M418T

c.1253T>C

1 paper

NM_002192.4

p.V420M

c.1258G>A

2 papers

NM_002192.4

p.G407C

c.1219G>T

1 paper

NM_002192.4

p.*427K

c.1279T>A

1 paper

NM_002192.4

p.M399I

c.1197G>T

1 paper

NM_002192.4

p.M399I

c.1197G>C

1 paper

NM_002192.4

p.M399I

c.1197G>A

1 paper

NM_002192.4

p.L396M

c.1186C>A