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.R195Q

c.584G>A

Surrounding Variants

2 papers

NM_002193.4

p.Y202C

c.605A>G

1 paper

NM_002193.4

p.P186T

c.556C>A

1 paper

NM_002193.4

p.P186S

c.556C>T

1 paper

NM_002193.4

p.L185Q

c.554T>A

1 paper

NM_002193.4

p.D210N

c.628G>A

1 paper

NM_002193.4

p.L178_Y181delFs

c.533_542del10

1 paper

NM_002193.4

p.K217R

c.650A>G

2 papers

NM_002193.4

p.L221_P230del0

c.661_690del30

1 paper

NM_002193.4

p.R223C

c.667C>T

1 paper

NM_002193.4

p.N165N

c.495C>T

1 paper

NM_002193.4

p.R158C

c.472C>T

1 paper

NM_002193.4

p.A153A

c.459C>T