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

1 paper

NM_005915.6

p.D821H

c.2461G>C

Surrounding Variants

1 paper

NM_005915.6

p.E820K

c.2458G>A

1 paper

NM_005915.6

p.P815T

c.2443C>A

4 papers

NM_005915.6

p.Y810H

c.2428T>C

1 paper

NM_005915.6

p.L780V

c.2338C>G

1 paper

NM_005915.6

p.R779P

c.2336G>C

1 paper

NM_005915.6

p.I777L

c.2329A>C

1 paper

NM_005915.6

p.R771T

c.2312G>C

1 paper

NM_005915.6

p.R771delFs

c.2311delT

1 paper

NM_005915.6

p.R771fs

c.2311_2312fs

1 paper

NM_005915.6

p.E765A

c.2294A>C

1 paper

NM_005915.6

p.E764A

c.2291A>C

1 paper

NM_005915.6

p.E763D

c.2289A>T