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

2 papers

NM_005610.3

p.L150L

c.450T>C

Surrounding Variants

1 paper

NM_005610.3

p.L150insFs

c.449_450insC

2 papers

NM_005610.3

p.V151V

c.453T>C

2 papers

NM_005610.3

p.T155I

c.464C>T

1 paper

NM_005610.3

p.R131L

c.392G>T

1 paper

NM_005610.3

p.R131S

c.391C>A

1 paper

NM_005610.3

p.R131C

c.391C>T

2 papers

NM_005610.3

p.E126A

c.377A>C

1 paper

NM_005610.3

p.E116insFs

c.347_348insC

1 paper

NM_005610.3

p.K114*

c.340A>T

1 paper

NM_005610.3

p.E104Splc

c.311-1G>A

1 paper

NM_005610.3

p.G165G

c.495A>T

1 paper

NM_005610.3

p.G175R

c.523G>A