Varaico: Literature-Extracted Genetic Variants

RBBP7

65 papers

RefSeq Summary

This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma pro...

Pfam Domains

CAF1C_H4-bdaa 18–87UCSCHistone-binding protein RBBP4 or subunit C of CAF1 complex

WD40aa 166–205UCSCWD domain, G-beta repeat

WD40aa 217–255UCSCWD domain, G-beta repeat

WD40aa 262–301UCSCWD domain, G-beta repeat

WD40aa 306–345UCSCWD domain, G-beta repeat

WD40aa 363–402UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

RB binding protein 7, chromatin remodeling factor

HGNC Alias Symbol

RbAp46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002893.4

p.N17D

c.49A>G

Surrounding Variants

1 paper

NM_002893.4

p.K25del1

c.73_74delCTT

1 paper

NM_002893.4

p.P28L

c.83C>T

1 paper

NM_002893.4

p.Y31D

c.91T>G

1 paper

NM_002893.4

p.Y31C

c.92A>G

1 paper

NM_002893.4

p.Q47K

c.139C>A

1 paper

NM_002893.4

p.Q47H

c.141G>T

1 paper

NM_002893.4

p.Q47H

c.141G>C

1 paper

NM_002893.4

p.M6Splc

c.16+1G>A

1 paper

NM_002893.4

p.M1fs

c.1_2fs

1 paper

NM_002893.4

p.L62F

c.184C>T

1 paper

NM_002893.4

p.T71R

c.212C>G

1 paper

NM_002893.4

p.E74K

c.220G>A