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

1–12 of 38 variants

2 papers

NM_053004.3

p.C70R

c.208T>C

2 papers

NM_053004.3

p.W239G

c.715T>G

1 paper

NM_053004.3

p.M1T

c.2T>C

1 paper

NM_053004.3

p.T2M

c.5C>T

1 paper

NM_053004.3

p.P6L

c.17C>T

1 paper

NM_053004.3

p.L16L

c.48C>G

1 paper

NM_053004.3

p.T19I

c.56C>T

1 paper

NM_053004.3

p.L26L

c.78G>A

1 paper

NM_053004.3

p.R37H

c.110G>A

1 paper

NM_053004.3

p.S42L

c.125C>T

1 paper

NM_053004.3

p.G43A

c.128G>C

1 paper

NM_053004.3

p.T56M

c.167C>T