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.D356insFs

c.1067_1068insGA

Surrounding Variants

1 paper

NM_005057.4

p.T365K

c.1094C>A

1 paper

NM_005057.4

p.E347A

c.1040A>C

1 paper

NM_005057.4

p.E338A

c.1013A>C

1 paper

NM_005057.4

p.D335A

c.1004A>C

1 paper

NM_005057.4

p.A333T

c.997G>A

1 paper

NM_005057.4

p.E327A

c.980A>C

1 paper

NM_005057.4

p.R307*

c.919C>T

1 paper

NM_005057.4

p.H304Y

c.910C>T

1 paper

NM_005057.4

p.E296D

c.888A>T

1 paper

NM_005057.4

p.E296D

c.888A>C

1 paper

NM_005057.4

p.G292E

c.875G>A

1 paper

NM_005057.4

p.L290V

c.868C>G