Varaico: Literature-Extracted Genetic Variants

Gene:MCM10
Variant:p.E117Splc

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.E117Splc
c.349+56C>T
Surrounding Variants
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
2 papers
NM_018518.5
p.G79delFs
c.236delG
1 paper
NM_018518.5
p.F78S
c.233T>C
1 paper
NM_018518.5
p.T76I
c.227C>T
1 paper
NM_018518.5
p.D60G
c.179A>G
1 paper
NM_018518.5
p.T56A
c.166A>G
1 paper
NM_018518.5
p.D51E
c.153C>A
1 paper
NM_018518.5
p.D51E
c.153C>G
1 paper
NM_018518.5
p.F46V
c.136T>G
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