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.N319I

c.956A>T

Surrounding Variants

1 paper

NM_002192.4

p.D315D

c.945T>C

1 paper

NM_002192.4

p.K324Q

c.970A>C

1 paper

NM_002192.4

p.E313D

c.939G>C

1 paper

NM_002192.4

p.R310Q

c.929G>A

1 paper

NM_002192.4

p.R310W

c.928C>T

1 paper

NM_002192.4

p.S329R

c.985A>C

2 papers

NM_002192.4

p.R309L

c.926G>T

2 papers

NM_002192.4

p.R309Q

c.926G>A

1 paper

NM_002192.4

p.S329R

c.987T>G

1 paper

NM_002192.4

p.S329R

c.987T>A

2 papers

NM_002192.4

p.R308C

c.922C>T

1 paper

NM_002192.4

p.K331R

c.992A>G