Varaico: Literature-Extracted Genetic Variants

RBBP4

107 papers

RefSeq Summary

This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and c...

Pfam Domains

CAF1C_H4-bdaa 19–88UCSCHistone-binding protein RBBP4 or subunit C of CAF1 complex

WD40aa 167–206UCSCWD domain, G-beta repeat

WD40aa 218–256UCSCWD domain, G-beta repeat

WD40aa 263–302UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

RB binding protein 4, chromatin remodeling factor

HGNC Alias Symbols

RbAp48; NURF55; lin-53

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005610.3

p.G244W

c.730G>T

Surrounding Variants

1 paper

NM_005610.3

p.D248A

c.743A>C

1 paper

NM_005610.3

p.H239L

c.716A>T

2 papers

NM_005610.3

p.E231A

c.692A>C

1 paper

NM_005610.3

p.E231_D232del1

c.693_695delAGA

1 paper

NM_005610.3

p.K215R

c.644A>G

1 paper

NM_005610.3

p.A209T

c.625G>A

1 paper

NM_005610.3

p.R258H

c.773G>A

1 paper

NM_005610.3

p.S259*

c.776C>A

1 paper

NM_005610.3

p.S259*

c.776C>G

1 paper

NM_005610.3

p.N261_T262ins1

c.783_784insACT

1 paper

NM_005610.3

p.D270insFs

c.808_809insT

1 paper

NM_005610.3

p.E275A

c.824A>C