Varaico: Literature-Extracted Genetic Variants

Gene:RB1CC1
Variant:p.E1259delFs

RB1CC1

182 papers

RefSeq Summary

The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhanc...

Pfam Domains

ATG11aa 1456–1589UCSCAutophagy-related protein 11

Gene Aliases

HGNC Name

RB1 inducible coiled-coil 1

HGNC Alias Symbols

KIAA0203; Cc1; DRAGOU14; FIP200; ATG17; PPP1R131

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014781.5
p.E1259delFs
c.3776_3777delCT
Surrounding Variants
1 paper
NM_014781.5
p.E1259del1
c.3775_3776delCTC
1 paper
NM_014781.5
p.L1267F
c.3799C>T
1 paper
NM_014781.5
p.E1252Q
c.3754G>C
1 paper
NM_014781.5
p.N1235S
c.3704A>G
3 papers
NM_014781.5
p.E1228delFs
c.3682_3683delTC
1 paper
NM_014781.5
p.R1216K
c.3647G>A
1 paper
NM_014781.5
p.E1206K
c.3616G>A
1 paper
NM_014781.5
p.K1194Q
c.3580A>C
1 paper
NM_014781.5
p.I1176L
c.3526A>T
1 paper
NM_014781.5
p.I1176L
c.3526A>C
1 paper
NM_014781.5
p.N1171fs
c.3511_3512fs
1 paper
NM_014781.5
p.N1171insFs
c.3512_3513insA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."