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

1 paper

NM_002193.4

p.I310N

c.929T>A

Surrounding Variants

1 paper

NM_002193.4

p.I310V

c.928A>G

1 paper

NM_002193.4

p.D311E

c.933C>A

1 paper

NM_002193.4

p.D311E

c.933C>G

1 paper

NM_002193.4

p.F312F

c.936C>T

1 paper

NM_002193.4

p.T300A

c.898A>G

1 paper

NM_002193.4

p.R292Q

c.875G>A

1 paper

NM_002193.4

p.R292*

c.874C>T

1 paper

NM_002193.4

p.G329E

c.986G>A

1 paper

NM_002193.4

p.G329A

c.986G>C

1 paper

NM_002193.4

p.G329V

c.986G>T

1 paper

NM_002193.4

p.G345fs

c.1033_1034fs

1 paper

NM_002193.4

p.A347G

c.1040C>G