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.H373R

c.1118A>G

Surrounding Variants

1 paper

NM_005610.3

p.W382*

c.1145G>A

1 paper

NM_005610.3

p.W382*

c.1146G>A

1 paper

NM_005610.3

p.I390I

c.1170T>A

1 paper

NM_005610.3

p.E395A

c.1184A>C

1 paper

NM_005610.3

p.M404_A405Splc

c.1212+3A>C

1 paper

NM_005610.3

p.G362E

c.1085G>A

1 paper

NM_005610.3

p.D361N

c.1081G>A

1 paper

NM_005610.3

p.E360Q

c.1078G>C

1 paper

NM_005610.3

p.D358N

c.1072G>A

1 paper

NM_005610.3

p.E357Q

c.1069G>C

1 paper

NM_005610.3

p.G351E

c.1052G>A

1 paper

NM_005610.3

p.L347_S348insC

c.1039_1043ins3