Varaico: Literature-Extracted Genetic Variants

Gene:RBBP6
Variant:p.T378S

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.T378S
c.1132A>T
Surrounding Variants
1 paper
NM_006910.5
p.T378S
c.1133C>G
1 paper
NM_006910.5
p.H379Y
c.1135C>T
1 paper
NM_006910.5
p.L369_M370delFs
c.1106_1110del5
1 paper
NM_006910.5
p.Q391E
c.1171C>G
1 paper
NM_006910.5
p.S363P
c.1087T>C
1 paper
NM_006910.5
p.S393F
c.1178C>T
3 papers
NM_006910.5
p.R359R
c.1075A>C
1 paper
NM_006910.5
p.P348del1
c.1042_1043delCCA
1 paper
NM_006910.5
p.R430L
c.1289G>T
1 paper
NM_006910.5
p.K313E
c.937A>G
1 paper
NM_006910.5
p.N312D
c.934A>G
1 paper
NM_006910.5
p.T298M
c.893C>T
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