Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.E510*

RBL2

245 papers

Pfam Domains

DUF3452aa 104–239UCSCDomain of unknown function (DUF3452)
RB_Aaa 417–609UCSCRetinoblastoma-associated protein A domain
RB_Baa 835–1018UCSCRetinoblastoma-associated protein B domain

Gene Aliases

HGNC Name

RB transcriptional corepressor like 2

HGNC Alias Symbols

Rb2; p130

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005611.4
p.E510*
c.1528G>T
Surrounding Variants
2 papers
NM_005611.4
p.E504*
c.1510G>T
1 paper
NM_005611.4
p.K501T
c.1502A>C
1 paper
NM_005611.4
p.K501R
c.1502A>G
4 papers
NM_005611.4
p.A495V
c.1484C>T
1 paper
NM_005611.4
p.R493C
c.1477C>T
1 paper
NM_005611.4
p.K490*
c.1468A>T
1 paper
NM_005611.4
p.N482ins1
c.1444_1445insGGC
1 paper
NM_005611.4
p.Q475E
c.1423C>G
1 paper
NM_005611.4
p.E468_D477ins3
c.1403_1429dup27
1 paper
NM_005611.4
p.E465*
c.1393G>T
1 paper
NM_005611.4
p.R453*
c.1357A>T
1 paper
NM_005611.4
p.R449Splc
c.1347-2A>G
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