Varaico: Literature-Extracted Genetic Variants

Gene:CDT1
Variant:p.D280N

CDT1

171 papers

RefSeq Summary

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and...

Pfam Domains

CDT1aa 186–349UCSCDNA replication factor CDT1 like
CDT1_Caa 421–516UCSCDNA replication factor Cdt1 C-terminal domain

Gene Aliases

HGNC Name

chromatin licensing and DNA replication factor 1

HGNC Alias Symbols

DUP; RIS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030928.4
p.D280N
c.838G>A
Surrounding Variants
1 paper
NM_030928.4
p.A279V
c.836C>T
1 paper
NM_030928.4
p.R290H
c.869G>A
1 paper
NM_030928.4
p.L292insFs
c.874_875ins4
1 paper
NM_030928.4
p.S299_Q300del2
c.895_899del6
1 paper
NM_030928.4
p.V303E
c.908T>A
3 papers
NM_030928.4
p.E278*
c.832G>T
1 paper
NM_030928.4
p.L275P
c.824T>C
2 papers
NM_030928.4
p.T262A
c.784A>G
1 paper
NM_030928.4
p.T257I
c.770C>T
1 paper
NM_030928.4
p.R253fs
c.757_758fs
1 paper
NM_030928.4
p.R250_T262delFs
c.750_784del35
1 paper
NM_030928.4
p.R248L
c.743G>T
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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."