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.Y349F

c.1046A>T

Surrounding Variants

1 paper

NM_002192.4

p.C350R

c.1048T>C

1 paper

NM_002192.4

p.H346Y

c.1036C>T

1 paper

NM_002192.4

p.C354S

c.1060T>A

5 papers

NM_002192.4

p.G344G

c.1032C>T

1 paper

NM_002192.4

p.C354S

c.1061G>C

1 paper

NM_002192.4

p.P355R

c.1064C>G

1 paper

NM_002192.4

p.S356I

c.1067G>T

1 paper

NM_002192.4

p.A341T

c.1021G>A

1 paper

NM_002192.4

p.A359T

c.1075G>A

1 paper

NM_002192.4

p.W338R

c.1012T>C

1 paper

NM_002192.4

p.W338R

c.1012T>A

1 paper

NM_002192.4

p.D337N

c.1009G>A