Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.K857*

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.K857*
c.2569A>T
Surrounding Variants
3 papers
NM_005611.4
p.L858R
c.2573T>G
1 paper
NM_005611.4
p.D859N
c.2575G>A
1 paper
NM_005611.4
p.I868M
c.2604C>G
1 paper
NM_005611.4
p.V843I
c.2527G>A
1 paper
NM_005611.4
p.K842_V843Splc
c.2527-1G>C
1 paper
NM_005611.4
p.F874_S875insA
c.2620_2624ins3
1 paper
NM_005611.4
p.L882_M883insQ
c.2644_2648ins3
1 paper
NM_005611.4
p.L882F
c.2644C>T
1 paper
NM_005611.4
p.M893fs
c.2677_2678fs
1 paper
NM_005611.4
p.M893_C894delFs
c.2678_2682del5
1 paper
NM_005611.4
p.C894S
c.2680T>A
1 paper
NM_005611.4
p.C894S
c.2681G>C
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