Varaico: Literature-Extracted Genetic Variants

GRWD1

58 papers

RefSeq Summary

This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation thro...

Pfam Domains

CAF1C_H4-bdaa 44–112UCSCHistone-binding protein RBBP4 or subunit C of CAF1 complex

WD40aa 252–290UCSCWD domain, G-beta repeat

WD40aa 298–336UCSCWD domain, G-beta repeat

WD40aa 343–382UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

glutamate rich WD repeat containing 1

HGNC Alias Symbols

WDR28; RRB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_031485.4

p.V168L

c.502G>C

Surrounding Variants

2 papers

NM_031485.4

p.V168L

c.502G>T

1 paper

NM_031485.4

p.E163E

c.489G>A

1 paper

NM_031485.4

p.G173D

c.518G>A

1 paper

NM_031485.4

p.V175G

c.524T>G

1 paper

NM_031485.4

p.R181L

c.542G>T

1 paper

NM_031485.4

p.V187M

c.559G>A

1 paper

NM_031485.4

p.V187E

c.560T>A

2 papers

NM_031485.4

p.A195V

c.584C>T

1 paper

NM_031485.4

p.P206L

c.617C>T

1 paper

NM_031485.4

p.I207M

c.621C>G

1 paper

NM_031485.4

p.G215S

c.643G>A

1 paper

NM_031485.4

p.W222R

c.664T>A