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

2 papers

NM_005915.6

p.I656V

c.1966A>G

Surrounding Variants

1 paper

NM_005915.6

p.R658C

c.1972C>T

2 papers

NM_005915.6

p.R658H

c.1973G>A

1 paper

NM_005915.6

p.E647V

c.1940A>T

1 paper

NM_005915.6

p.E647K

c.1939G>A

1 paper

NM_005915.6

p.N665S

c.1994A>G

1 paper

NM_005915.6

p.Q641*

c.1921C>T

1 paper

NM_005915.6

p.E639_V640Splc

c.1918-1G>A

1 paper

NM_005915.6

p.N704K

c.2112T>A

1 paper

NM_005915.6

p.C721S

c.2161T>A

1 paper

NM_005915.6

p.C721S

c.2162G>C

1 paper

NM_005915.6

p.L729fs

c.2185_2186fs

7 papers

NM_005915.6

p.E639_V640Splc

c.1917+326C>T