Varaico: Literature-Extracted Genetic Variants

Gene:MCM10
Variant:p.E152Splc

MCM10

72 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

OB_MCM10aa 249–379UCSCMCM10 OB-fold
zf-primaseaa 382–427UCSCPrimase zinc finger
zf-CCCH_Mcm10aa 524–817UCSCMcm10, CCCH-type zinc motif
Mcm10aa 818–873UCSCMcm10, C-terminal zinc binding motif

Gene Aliases

HGNC Name

minichromosome maintenance 10 replication initiation factor

HGNC Alias Symbols

PRO2249; CNA43; DNA43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018518.5
p.E152Splc
c.455-1G>C
Surrounding Variants
1 paper
NM_018518.5
p.S170A
c.508T>G
1 paper
NM_018518.5
p.E176A
c.527A>C
2 papers
NM_018518.5
p.A194P
c.580G>C
1 paper
NM_018518.5
p.S150F
c.449C>T
1 paper
NM_018518.5
p.Q140K
c.418C>A
1 paper
NM_018518.5
p.K134R
c.401A>G
1 paper
NM_018518.5
p.K127R
c.380A>G
1 paper
NM_018518.5
p.E117Splc
c.349+56C>T
1 paper
NM_018518.5
p.L101F
c.301C>T
1 paper
NM_018518.5
p.T96S
c.287C>G
1 paper
NM_018518.5
p.T96S
c.286A>T
1 paper
NM_018518.5
p.G79fs
c.235_236fs
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