Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.K131N

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.K131N
c.393G>C
Surrounding Variants
1 paper
NM_005611.4
p.K131N
c.393G>T
1 paper
NM_005611.4
p.N130insFs
c.389dupA
1 paper
NM_005611.4
p.F129Y
c.386T>A
1 paper
NM_005611.4
p.E127K
c.379G>A
1 paper
NM_005611.4
p.I126S
c.377T>G
1 paper
NM_005611.4
p.L141P
c.422T>C
1 paper
NM_005611.4
p.P143R
c.428C>G
1 paper
NM_005611.4
p.P143L
c.428C>T
1 paper
NM_005611.4
p.R146delFs
c.436_437delAG
1 paper
NM_005611.4
p.R148H
c.443G>A
1 paper
NM_005611.4
p.E150K
c.448G>A
1 paper
NM_005611.4
p.R154K
c.461G>A
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