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.F107delFs

c.321delA

Surrounding Variants

1 paper

NM_002893.4

p.G108fs

c.322_323fs

1 paper

NM_002893.4

p.G112fs

c.334_335fs

1 paper

NM_002893.4

p.E103Splc

c.308-2A>C

1 paper

NM_002893.4

p.E123K

c.367G>A

1 paper

NM_002893.4

p.R130C

c.388C>T

1 paper

NM_002893.4

p.N167K

c.501T>G

1 paper

NM_002893.4

p.N167K

c.501T>A

1 paper

NM_002893.4

p.P168R

c.503C>G

1 paper

NM_002893.4

p.A90A

c.270A>T

1 paper

NM_002893.4

p.R82*

c.244C>T

1 paper

NM_002893.4

p.A81G

c.242C>G

1 paper

NM_002893.4

p.Q75_H77del3

c.223_230del9