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

1–12 of 52 variants

2 papers

NM_005057.4

p.P146P

c.438G>A

2 papers

NM_005057.4

p.W254*

c.762G>A

2 papers

NM_005057.4

p.L427L

c.1279T>C

1 paper

NM_005057.4

p.E7K

c.19G>A

1 paper

NM_005057.4

p.N33S

c.98A>G

1 paper

NM_005057.4

p.L38P

c.113T>C

1 paper

NM_005057.4

p.G46D

c.137G>A

1 paper

NM_005057.4

p.V82M

c.244G>A

1 paper

NM_005057.4

p.S97*

c.290C>G

1 paper

NM_005057.4

p.S97*

c.290C>A

1 paper

NM_005057.4

p.H116Y

c.346C>T

1 paper

NM_005057.4

p.K129N

c.387A>T