Varaico: Literature-Extracted Genetic Variants

Gene:RBBP6
Variant:p.L12L

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
1 paper
NM_006910.5
p.L12L
c.36C>A
Surrounding Variants
1 paper
NM_006910.5
p.N13S
c.38A>G
1 paper
NM_006910.5
p.K11R
c.32A>G
1 paper
NM_006910.5
p.D15N
c.43G>A
1 paper
NM_006910.5
p.V17I
c.49G>A
1 paper
NM_006910.5
p.H5R
c.14A>G
1 paper
NM_006910.5
p.D20N
c.58G>A
1 paper
NM_006910.5
p.S2_C3del2
c.4_8del6
1 paper
NM_006910.5
p.M1V
c.1A>G
1 paper
NM_006910.5
p.M1delFs
c.2_3delTG
1 paper
NM_006910.5
p.C27F
c.80G>T
1 paper
NM_006910.5
p.D28Y
c.82G>T
1 paper
NM_006910.5
p.G35R
c.103G>A
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