Varaico: Literature-Extracted Genetic Variants

GNB1L

39 papers

RefSeq Summary

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically brac...

Pfam Domains

WD40aa 57–96UCSCWD domain, G-beta repeat

WD40aa 242–281UCSCWD domain, G-beta repeat

WD40aa 285–322UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

G protein subunit beta 1 like

HGNC Alias Symbols

GY2; WDR14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_053004.3

p.Q86fs

c.256_257fs

Surrounding Variants

1 paper

NM_053004.3

p.Q86delFs

c.256delG

1 paper

NM_053004.3

p.R88W

c.262C>T

1 paper

NM_053004.3

p.A98A

c.294G>A

1 paper

NM_053004.3

p.V108M

c.322G>A

1 paper

NM_053004.3

p.R127C

c.379C>T

1 paper

NM_053004.3

p.V151V

c.453G>C

1 paper

NM_053004.3

p.S85Splc

c.254+1G>T

2 papers

NM_053004.3

p.C70R

c.208T>C

1 paper

NM_053004.3

p.G68S

c.202G>A

1 paper

NM_053004.3

p.T62T

c.186C>T

1 paper

NM_053004.3

p.R57Q

c.170G>A

1 paper

NM_053004.3

p.R57W

c.169C>T