Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.I636T

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
3 papers
NM_005611.4
p.I636T
c.1907T>C
Surrounding Variants
1 paper
NM_005611.4
p.T642A
c.1924A>G
1 paper
NM_005611.4
p.R630G
c.1888A>G
1 paper
NM_005611.4
p.P643S
c.1927C>T
1 paper
NM_005611.4
p.R650C
c.1948C>T
1 paper
NM_005611.4
p.R650H
c.1949G>A
1 paper
NM_005611.4
p.G657A
c.1970G>C
1 paper
NM_005611.4
p.E621_V622Splc
c.1864-415A>G
1 paper
NM_005611.4
p.S659Splc
c.1975+902G>T
1 paper
NM_005611.4
p.E607fs
c.1819_1820fs
1 paper
NM_005611.4
p.L605L
c.1815C>T
1 paper
NM_005611.4
p.P604L
c.1811C>T
1 paper
NM_005611.4
p.E581fs
c.1741_1742fs
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