Varaico: Literature-Extracted Genetic Variants

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

3 papers

NM_005915.6

p.I220V

c.658A>G

Surrounding Variants

1 paper

NM_005915.6

p.R222C

c.664C>T

1 paper

NM_005915.6

p.V226V

c.678A>G

1 paper

NM_005915.6

p.E231*

c.691G>T

1 paper

NM_005915.6

p.R207C

c.619C>T

2 papers

NM_005915.6

p.G239S

c.715G>A

1 paper

NM_005915.6

p.D240G

c.719A>G

1 paper

NM_005915.6

p.V250I

c.748G>A

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.G261Splc

c.782-2A>G

1 paper

NM_005915.6

p.G261E

c.782G>A

1 paper

NM_005915.6

p.R263H

c.788G>A