Varaico: Literature-Extracted Genetic Variants

Gene:MCM6
Variant:p.I444M

MCM6

149 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 27–116UCSCMCM N-terminal domain
MCM_OBaa 122–252UCSCMCM OB domain
MCMaa 333–556UCSCMCM P-loop domain
MCM_lidaa 570–656UCSCMCM AAA-lid domain
WHD_MCM6aa 711–819UCSCMCM6 C-terminal winged-helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 6

HGNC Alias Symbol

Mis5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005915.6
p.I444M
c.1332T>G
Surrounding Variants
1 paper
NM_005915.6
p.H440Q
c.1320T>G
1 paper
NM_005915.6
p.H440Q
c.1320T>A
1 paper
NM_005915.6
p.H440Y
c.1318C>T
1 paper
NM_005915.6
p.L449F
c.1347G>T
1 paper
NM_005915.6
p.L449F
c.1347G>C
1 paper
NM_005915.6
p.E438G
c.1313A>G
1 paper
NM_005915.6
p.S425I
c.1274G>T
1 paper
NM_005915.6
p.V409M
c.1225G>A
1 paper
NM_005915.6
p.H408Y
c.1222C>T
1 paper
NM_005915.6
p.V456M
c.1366G>A
1 paper
NM_005915.6
p.D463G
c.1388A>G
1 paper
NM_005915.6
p.R468W
c.1402C>T
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