Varaico: Literature-Extracted Genetic Variants

Gene:RBL2

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
1–12 of 248 variants
5 papers
NM_005611.4
p.K309insFs
c.926dupA
4 papers
NM_005611.4
p.R186*
c.556C>T
4 papers
NM_005611.4
p.A495V
c.1484C>T
4 papers
NM_005611.4
p.E575Q
c.1723G>C
3 papers
NM_005611.4
p.Y301insFs
c.901dupT
3 papers
NM_005611.4
p.L310fs
c.928_929fs
3 papers
NM_005611.4
p.L532_L533delFs
c.1596_1597delCT
3 papers
NM_005611.4
p.I636T
c.1907T>C
3 papers
NM_005611.4
p.L858R
c.2573T>G
3 papers
NM_005611.4
p.T961Splc
c.2881+1G>A
3 papers
NM_005611.4
p.S995G
c.2983A>G
3 papers
NM_005611.4
p.N1134T
c.3401A>C
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