Varaico: Literature-Extracted Genetic Variants

RBBP5

57 papers

RefSeq Summary

This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regu...

Pfam Domains

WD40aa 19–52UCSCWD domain, G-beta repeat

WD40aa 58–94UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

RB binding protein 5, histone lysine methyltransferase complex subunit

HGNC Alias Symbols

RBQ3; SWD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005057.4

p.S196S

c.588C>T

Surrounding Variants

1 paper

NM_005057.4

p.T199P

c.595A>C

1 paper

NM_005057.4

p.V191M

c.571G>A

1 paper

NM_005057.4

p.S211Splc

c.633-28G>C

1 paper

NM_005057.4

p.I215T

c.644T>C

1 paper

NM_005057.4

p.T232I

c.695C>T

1 paper

NM_005057.4

p.Q243delFs

c.729delC

1 paper

NM_005057.4

p.K244fs

c.730_731fs

1 paper

NM_005057.4

p.V249L

c.745G>T

1 paper

NM_005057.4

p.W254*

c.761G>A

2 papers

NM_005057.4

p.W254*

c.762G>A

1 paper

NM_005057.4

p.R272Q

c.815G>A

1 paper

NM_005057.4

p.L290V

c.868C>G