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

1–12 of 138 variants

7 papers

NM_005915.6

p.E639_V640Splc

c.1917+326C>T

5 papers

NM_005915.6

p.R92W

c.274C>T

4 papers

NM_005915.6

p.Y810H

c.2428T>C

3 papers

NM_005915.6

p.I220V

c.658A>G

2 papers

NM_005915.6

p.P149S

c.445C>T

2 papers

NM_005915.6

p.D202G

c.605A>G

2 papers

NM_005915.6

p.G239S

c.715G>A

2 papers

NM_005915.6

p.P305S

c.913C>T

2 papers

NM_005915.6

p.Q320*

c.958C>T

2 papers

NM_005915.6

p.N361S

c.1082A>G

2 papers

NM_005915.6

p.A495T

c.1483G>A

2 papers

NM_005915.6

p.I656V

c.1966A>G