Varaico: Literature-Extracted Genetic Variants

Gene:RBL2
Variant:p.M1029I

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.M1029I
c.3087G>A
Surrounding Variants
1 paper
NM_005611.4
p.M1029I
c.3087G>C
1 paper
NM_005611.4
p.M1029I
c.3087G>T
1 paper
NM_005611.4
p.S1035A
c.3103T>G
1 paper
NM_005611.4
p.P1036S
c.3106C>T
1 paper
NM_005611.4
p.P1036H
c.3107C>A
2 papers
NM_005611.4
p.S1044A
c.3130T>G
1 paper
NM_005611.4
p.S1044F
c.3131C>T
1 paper
NM_005611.4
p.R1047*
c.3139C>T
1 paper
NM_005611.4
p.S1068A
c.3202T>G
1 paper
NM_005611.4
p.S1080I
c.3239G>T
1 paper
NM_005611.4
p.K1083Q
c.3247A>C
2 papers
NM_005611.4
p.K1083R
c.3248A>G
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