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

1 paper

NM_031485.4

p.E132D

c.396G>T

Surrounding Variants

1 paper

NM_031485.4

p.E132D

c.396G>C

1 paper

NM_031485.4

p.E126E

c.378A>G

1 paper

NM_031485.4

p.D123G

c.368A>G

1 paper

NM_031485.4

p.T114K

c.341C>A

1 paper

NM_031485.4

p.N153fs

c.457_458fs

1 paper

NM_031485.4

p.R80W

c.238C>T

1 paper

NM_031485.4

p.H75R

c.224A>G

1 paper

NM_031485.4

p.D74V

c.221A>T

1 paper

NM_031485.4

p.A64V

c.191C>T

1 paper

NM_031485.4

p.E45D

c.135G>C

1 paper

NM_031485.4

p.E45D

c.135G>T

2 papers

NM_031485.4

p.R8R

c.24G>T