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.F350Y

c.1049T>A

Surrounding Variants

2 papers

NM_002193.4

p.T352R

c.1055C>G

1 paper

NM_002193.4

p.A347G

c.1040C>G

1 paper

NM_002193.4

p.G345fs

c.1033_1034fs

1 paper

NM_002193.4

p.R359C

c.1075C>T

1 paper

NM_002193.4

p.R359H

c.1076G>A

3 papers

NM_002193.4

p.M360T

c.1079T>C

1 paper

NM_002193.4

p.P365L

c.1094C>T

1 paper

NM_002193.4

p.P365P

c.1095C>A

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.D386N

c.1156G>A