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

1–12 of 82 variants

3 papers

NM_005610.3

p.E330K

c.988G>A

2 papers

NM_005610.3

p.E126A

c.377A>C

2 papers

NM_005610.3

p.L150L

c.450T>C

2 papers

NM_005610.3

p.V151V

c.453T>C

2 papers

NM_005610.3

p.T155I

c.464C>T

2 papers

NM_005610.3

p.E179A

c.536A>C

2 papers

NM_005610.3

p.E231A

c.692A>C

2 papers

NM_005610.3

p.E275D

c.825A>C

2 papers

NM_005610.3

p.E275D

c.825A>T

2 papers

NM_005610.3

p.H373R

c.1118A>G

1 paper

NM_005610.3

p.M1delFs

c.2delT

1 paper

NM_005610.3

p.A6E

c.17C>A