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.Y32H

c.94T>C

Surrounding Variants

1 paper

NM_005610.3

p.D33N

c.97G>A

1 paper

NM_005610.3

p.I23K

c.68T>A

1 paper

NM_005610.3

p.A47V

c.140C>T

1 paper

NM_005610.3

p.E13Q

c.37G>C

1 paper

NM_005610.3

p.A7D

c.20C>A

1 paper

NM_005610.3

p.A6E

c.17C>A

1 paper

NM_005610.3

p.M1delFs

c.2delT

1 paper

NM_005610.3

p.E57K

c.169G>A

1 paper

NM_005610.3

p.H64N

c.190C>A

1 paper

NM_005610.3

p.R65L

c.194G>T

1 paper

NM_005610.3

p.E75*

c.223G>T

1 paper

NM_005610.3

p.D90H

c.268G>C