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.S184C

c.551C>G

Surrounding Variants

1 paper

NM_005610.3

p.S184F

c.551C>T

1 paper

NM_005610.3

p.W185C

c.555G>C

1 paper

NM_005610.3

p.W185C

c.555G>T

1 paper

NM_005610.3

p.G182R

c.544G>A

1 paper

NM_005610.3

p.G182R

c.544G>C

1 paper

NM_005610.3

p.Y181C

c.542A>G

2 papers

NM_005610.3

p.E179A

c.536A>C

1 paper

NM_005610.3

p.L194_S195delFs

c.580_583del4

1 paper

NM_005610.3

p.G175R

c.523G>A

1 paper

NM_005610.3

p.L194fs

c.580_581fs

1 paper

NM_005610.3

p.D198H

c.592G>C

1 paper

NM_005610.3

p.D198G

c.593A>G