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.S396S

c.1188A>C

Surrounding Variants

1 paper

NM_005057.4

p.D390G

c.1169A>G

1 paper

NM_005057.4

p.G417delFs

c.1251delG

2 papers

NM_005057.4

p.L427L

c.1279T>C

1 paper

NM_005057.4

p.E458K

c.1372G>A

1 paper

NM_005057.4

p.D376Y

c.1126G>T

1 paper

NM_005057.4

p.V375E

c.1124T>A

1 paper

NM_005057.4

p.S497C

c.1490C>G

1 paper

NM_005057.4

p.V520E

c.1559T>A

1 paper

NM_005057.4

p.E523D

c.1569A>T

1 paper

NM_005057.4

p.E523D

c.1569A>C

1 paper

NM_005057.4

p.T365K

c.1094C>A

1 paper

NM_005057.4

p.D356insFs

c.1067_1068insGA