Varaico: Literature-Extracted Genetic Variants

Gene:MCM6
Variant:p.A304V

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.A304V
c.911C>T
Surrounding Variants
2 papers
NM_005915.6
p.P305S
c.913C>T
1 paper
NM_005915.6
p.V303I
c.907G>A
1 paper
NM_005915.6
p.T306I
c.917C>T
1 paper
NM_005915.6
p.L284F
c.850C>T
1 paper
NM_005915.6
p.R269H
c.806G>A
1 paper
NM_005915.6
p.T266T
c.798T>A
1 paper
NM_005915.6
p.R263H
c.788G>A
1 paper
NM_005915.6
p.G261E
c.782G>A
1 paper
NM_005915.6
p.G261Splc
c.782-2A>G
1 paper
NM_005915.6
p.T259I
c.776C>T
1 paper
NM_005915.6
p.T259K
c.776C>A
1 paper
NM_005915.6
p.V250I
c.748G>A
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