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.H137Q

c.411C>A

Surrounding Variants

1 paper

NM_002192.4

p.H137Q

c.411C>G

1 paper

NM_002192.4

p.F138I

c.412T>A

2 papers

NM_002192.4

p.T135M

c.404C>T

1 paper

NM_002192.4

p.S141S

c.423C>G

1 paper

NM_002192.4

p.E143Q

c.427G>C

1 paper

NM_002192.4

p.T131I

c.392C>T

1 paper

NM_002192.4

p.S148P

c.442T>C

1 paper

NM_002192.4

p.R152L

c.455G>T

1 paper

NM_002192.4

p.E154K

c.460G>A

1 paper

NM_002192.4

p.W156*

c.467G>A

1 paper

NM_002192.4

p.W156*

c.468G>A

1 paper

NM_002192.4

p.F158L

c.472T>C