Varaico: Literature-Extracted Genetic Variants

INHBB

69 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 62–278UCSCTGF-beta propeptide

TGF_betaaa 302–406UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

inhibin subunit beta B

HGNC Previous Names

inhibin, beta B (activin AB beta polypeptide); inhibin, beta B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002193.4

p.D71Y

c.211G>T

Surrounding Variants

1 paper

NM_002193.4

p.E66E

c.198G>A

1 paper

NM_002193.4

p.T56M

c.167C>T

1 paper

NM_002193.4

p.Q87K

c.259C>A

1 paper

NM_002193.4

p.S51*

c.152C>A

5 papers

NM_002193.4

p.S47A

c.139T>G

1 paper

NM_002193.4

p.P45S

c.133C>T

1 paper

NM_002193.4

p.T105M

c.314C>T

1 paper

NM_002193.4

p.R116C

c.346C>T

1 paper

NM_002193.4

p.Q137_E138delFs

c.411_412delGG

1 paper

NM_002193.4

p.S141T

c.421T>A

1 paper

NM_002193.4

p.F146F

c.438C>T

1 paper

NM_002193.4

p.G151fs

c.451_452fs