Varaico: Literature-Extracted Genetic Variants

Gene:RBBP6
Variant:p.S1381N

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.S1381N
c.4142G>A
Surrounding Variants
1 paper
NM_006910.5
p.S1347C
c.4039A>T
1 paper
NM_006910.5
p.P1416H
c.4247C>A
2 papers
NM_006910.5
p.R1433H
c.4298G>A
1 paper
NM_006910.5
p.N1439S
c.4316A>G
1 paper
NM_006910.5
p.S1319Y
c.3956C>A
1 paper
NM_006910.5
p.M1313L
c.3937A>T
2 papers
NM_006910.5
p.R1451T
c.4352G>C
1 paper
NM_006910.5
p.E1298K
c.3892G>A
1 paper
NM_006910.5
p.D1472fs
c.4414_4415fs
1 paper
NM_006910.5
p.R1290L
c.3869G>T
1 paper
NM_006910.5
p.D1472_K1473insFs
c.4416_4417insA
1 paper
NM_006910.5
p.R1290*
c.3868C>T
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