Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.Y544_K545delFs

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.Y544_K545delFs
c.1632_1633delTA
Surrounding Variants
1 paper
NM_005611.4
p.Y544*
c.1632T>A
1 paper
NM_005611.4
p.Y544*
c.1632T>G
1 paper
NM_005611.4
p.V540V
c.1620C>A
1 paper
NM_005611.4
p.P547A
c.1639C>G
1 paper
NM_005611.4
p.V540I
c.1618G>A
1 paper
NM_005611.4
p.N549I
c.1646A>T
1 paper
NM_005611.4
p.P551A
c.1651C>G
1 paper
NM_005611.4
p.L533fs
c.1597_1598fs
3 papers
NM_005611.4
p.L532_L533delFs
c.1596_1597delCT
1 paper
NM_005611.4
p.A527V
c.1580C>T
1 paper
NM_005611.4
p.L561R
c.1682T>G
1 paper
NM_005611.4
p.S520_G521Splc
c.1561-2A>C
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