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

1–12 of 47 variants

6 papers

NM_031485.4

p.R319Q

c.956G>A

2 papers

NM_031485.4

p.R8R

c.24G>T

2 papers

NM_031485.4

p.V168L

c.502G>C

2 papers

NM_031485.4

p.V168L

c.502G>T

2 papers

NM_031485.4

p.A195V

c.584C>T

2 papers

NM_031485.4

p.R255W

c.763C>T

2 papers

NM_031485.4

p.H307R

c.920A>G

1 paper

NM_031485.4

p.A2A

c.6G>T

1 paper

NM_031485.4

p.K5T

c.14A>C

1 paper

NM_031485.4

p.E45D

c.135G>C

1 paper

NM_031485.4

p.E45D

c.135G>T

1 paper

NM_031485.4

p.A64V

c.191C>T