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.S240L

c.719C>T

Surrounding Variants

1 paper

NM_002893.4

p.E239Q

c.715G>C

1 paper

NM_002893.4

p.D205N

c.613G>A

1 paper

NM_002893.4

p.L203_W204delFs

c.607_610del4

1 paper

NM_002893.4

p.L203fs

c.607_608fs

1 paper

NM_002893.4

p.L203L

c.609G>A

1 paper

NM_002893.4

p.S262A

c.784T>G

1 paper

NM_002893.4

p.A270T

c.808G>A

1 paper

NM_002893.4

p.E274K

c.820G>A

1 paper

NM_002893.4

p.V275I

c.823G>A

1 paper

NM_002893.4

p.Y283C

c.848A>G

1 paper

NM_002893.4

p.E285K

c.853G>A

2 papers

NM_002893.4

p.V297L

c.889G>T