Varaico: Literature-Extracted Genetic Variants

Gene:RBBP9
Variant:p.L56delFs

RBBP9

30 papers

RefSeq Summary

The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of ...

Pfam Domains

Ser_hydrolaseaa 7–184UCSCSerine hydrolase

Gene Aliases

HGNC Name

RB binding protein 9, serine hydrolase

HGNC Alias Symbol

Bog

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006606.3
p.L56delFs
c.167delA
Surrounding Variants
1 paper
NM_006606.3
p.R51R
c.151C>A
1 paper
NM_006606.3
p.L63P
c.188T>C
1 paper
NM_006606.3
p.R83Splc
c.248+3G>A
1 paper
NM_006606.3
p.I48Splc
c.142+48A>G
1 paper
NM_006606.3
p.V27G
c.80T>G
2 papers
NM_006606.3
p.G12delFs
c.35delC
1 paper
NM_006606.3
p.A85T
c.253G>A
1 paper
NM_006606.3
p.A98V
c.293C>T
1 paper
NM_006606.3
p.D102A
c.305A>C
1 paper
NM_006606.3
p.A110delFs
c.328delC
1 paper
NM_006606.3
p.R116C
c.346C>T
1 paper
NM_006606.3
p.K124K
c.372G>A
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