Varaico: Literature-Extracted Genetic Variants

Gene:MCM4
Variant:p.I283T

MCM4

185 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein...

Pfam Domains

MCM_Naa 163–264UCSCMCM N-terminal domain
MCM_OBaa 270–398UCSCMCM OB domain
MCMaa 445–670UCSCMCM P-loop domain
MCM_lidaa 685–769UCSCMCM AAA-lid domain
WHD_MCM4aa 792–862UCSCMCM4, winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 4

HGNC Previous Symbol

CDC21

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_182746.3
p.I283T
c.848T>C
Surrounding Variants
1 paper
NM_182746.3
p.I283L
c.847A>C
1 paper
NM_182746.3
p.T284I
c.851C>T
1 paper
NM_182746.3
p.S286S
c.858C>T
1 paper
NM_182746.3
p.R291S
c.873G>C
1 paper
NM_182746.3
p.T292insFs
c.874_875ins4
1 paper
NM_182746.3
p.R291S
c.873G>T
1 paper
NM_182746.3
p.F303Y
c.908T>A
1 paper
NM_182746.3
p.Q305E
c.913C>G
1 paper
NM_182746.3
p.T312M
c.935C>T
1 paper
NM_182746.3
p.E316D
c.948G>C
1 paper
NM_182746.3
p.E316D
c.948G>T
1 paper
NM_182746.3
p.R319C
c.955C>T
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