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.H307R

c.920A>G

Surrounding Variants

1 paper

NM_031485.4

p.S296N

c.887G>A

6 papers

NM_031485.4

p.R319Q

c.956G>A

1 paper

NM_031485.4

p.D290N

c.868G>A

1 paper

NM_031485.4

p.R287C

c.859C>T

1 paper

NM_031485.4

p.P271P

c.813G>A

2 papers

NM_031485.4

p.R255W

c.763C>T

1 paper

NM_031485.4

p.R229C

c.685C>T

1 paper

NM_031485.4

p.R225Q

c.674G>A

1 paper

NM_031485.4

p.R225fs

c.673_674fs

1 paper

NM_031485.4

p.W222R

c.664T>A

1 paper

NM_031485.4

p.G215S

c.643G>A

1 paper

NM_031485.4

p.I207M

c.621C>G