Varaico: Literature-Extracted Genetic Variants

Gene:CDT1
Variant:p.R516H

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.R516H
c.1547G>A
Surrounding Variants
1 paper
NM_030928.4
p.T517T
c.1551C>T
4 papers
NM_030928.4
p.Y520*
c.1560C>A
4 papers
NM_030928.4
p.Y520*
c.1560C>G
1 paper
NM_030928.4
p.D508E
c.1524C>A
1 paper
NM_030928.4
p.D508E
c.1524C>G
1 paper
NM_030928.4
p.K525delFs
c.1573delA
1 paper
NM_030928.4
p.P507S
c.1519C>T
1 paper
NM_030928.4
p.D528E
c.1584C>G
1 paper
NM_030928.4
p.L501P
c.1502T>C
1 paper
NM_030928.4
p.H498Y
c.1492C>T
1 paper
NM_030928.4
p.Q539H
c.1617G>C
1 paper
NM_030928.4
p.R541L
c.1622G>T
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