Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.Q171fs

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.Q171fs
c.511_512fs
Surrounding Variants
1 paper
NM_005611.4
p.F170delFs
c.510delT
1 paper
NM_005611.4
p.K175N
c.525A>C
1 paper
NM_005611.4
p.K175N
c.525A>T
1 paper
NM_005611.4
p.E180A
c.539A>C
1 paper
NM_005611.4
p.V158A
c.473T>C
1 paper
NM_005611.4
p.Q185E
c.553C>G
4 papers
NM_005611.4
p.R186*
c.556C>T
1 paper
NM_005611.4
p.R186L
c.557G>T
1 paper
NM_005611.4
p.R154K
c.461G>A
1 paper
NM_005611.4
p.E150K
c.448G>A
1 paper
NM_005611.4
p.R148H
c.443G>A
1 paper
NM_005611.4
p.R146delFs
c.436_437delAG
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