Varaico: Literature-Extracted Genetic Variants

Gene:MCM3
Variant:p.N68K

MCM3

127 papers

RefSeq Summary

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

Pfam Domains

MCM_Naa 16–104UCSCMCM N-terminal domain
MCM_OBaa 110–245UCSCMCM OB domain
MCMaa 280–505UCSCMCM P-loop domain
MCM_lidaa 520–607UCSCMCM AAA-lid domain
MCM_lidaa 566–653UCSCMCM AAA-lid domain
WHD_MCM3_Caa 691–762UCSCMCM3-like, winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 3

HGNC Previous Names

minichromosome maintenance deficient (S. cerevisiae) 3; MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002388.6
p.N68K
c.204T>G
Surrounding Variants
1 paper
NM_002388.6
p.N68K
c.204T>A
1 paper
NM_002388.6
p.E72*
c.214G>T
1 paper
NM_002388.6
p.R64Splc
c.192-1G>A
1 paper
NM_002388.6
p.V84_A85insC
c.250_254ins3
1 paper
NM_002388.6
p.S86Y
c.257C>A
1 paper
NM_002388.6
p.I87V
c.259A>G
1 paper
NM_002388.6
p.S105G
c.313A>G
1 paper
NM_002388.6
p.F106insFs
c.316_317insC
1 paper
NM_002388.6
p.S112A
c.334T>G
1 paper
NM_002388.6
p.L121R
c.362T>G
1 paper
NM_002388.6
p.C123Y
c.368G>A
1 paper
NM_002388.6
p.V124G
c.371T>G
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