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

2 papers

NM_002893.4

p.I400insFs

c.1200dupA

Surrounding Variants

2 papers

NM_002893.4

p.W401fs

c.1201_1202fs

1 paper

NM_002893.4

p.M403_A404Splc

c.1209+1G>A

1 paper

NM_002893.4

p.T373ins2

c.1118_1119ins6

1 paper

NM_001198719.2

p.H416P

c.1247A>C

1 paper

NM_002893.4

p.E405Q

c.1213G>C

2 papers

NM_002893.4

p.D360N

c.1078G>A

2 papers

NM_002893.4

p.E359Q

c.1075G>C

2 papers

NM_002893.4

p.D357N

c.1069G>A

2 papers

NM_002893.4

p.E356Q

c.1066G>C

1 paper

NM_002893.4

p.S347Splc

c.1040+1G>T

1 paper

NM_002893.4

p.R340H

c.1019G>A

1 paper

NM_002893.4

p.E318K

c.952G>A