Varaico: Literature-Extracted Genetic Variants

Gene:RBBP6
Variant:p.S136L

RBBP6

216 papers

RefSeq Summary

The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylati...

Pfam Domains

DWNNaa 4–76UCSCDWNN domain
zf-CCHC_2aa 156–176UCSCZinc knuckle
U-boxaa 253–327UCSCU-box domain

Gene Aliases

HGNC Name

RB binding protein 6, ubiquitin ligase

HGNC Alias Symbols

P2P-R; PACT; SNAMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006910.5
p.S136L
c.407C>T
Surrounding Variants
1 paper
NM_006910.5
p.P144S
c.430C>T
1 paper
NM_006910.5
p.P144P
c.432A>T
1 paper
NM_006910.5
p.A125T
c.373G>A
1 paper
NM_006910.5
p.A123V
c.368C>T
1 paper
NM_006910.5
p.P156S
c.466C>T
1 paper
NM_006910.5
p.F162I
c.484T>A
1 paper
NM_006910.5
p.Y170C
c.509A>G
1 paper
NM_006910.5
p.I171L
c.511A>C
1 paper
NM_006910.5
p.P175T
c.523C>A
1 paper
NM_006910.5
p.G193_R196delFs
c.577_586del10
1 paper
NM_006910.5
p.M200I
c.600G>A
1 paper
NM_006910.5
p.M200I
c.600G>C
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