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.I107N

c.320T>A

Surrounding Variants

1 paper

NM_002192.4

p.E104D

c.312G>T

1 paper

NM_002192.4

p.E104D

c.312G>C

1 paper

NM_002192.4

p.M113I

c.339G>T

1 paper

NM_002192.4

p.M113I

c.339G>C

1 paper

NM_002192.4

p.M113I

c.339G>A

1 paper

NM_002192.4

p.N114I

c.341A>T

1 paper

NM_002192.4

p.L116R

c.347T>G

1 paper

NM_002192.4

p.M117I

c.351G>T

1 paper

NM_002192.4

p.M117I

c.351G>C

1 paper

NM_002192.4

p.M117I

c.351G>A

2 papers

NM_002192.4

p.L116_M117del2

c.346_350del6

1 paper

NM_002192.4

p.Q119K

c.355C>A