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.G360Splc

c.1078+40A>C

Surrounding Variants

1 paper

NM_005915.6

p.T357I

c.1070C>T

1 paper

NM_005915.6

p.L346_L354del9

c.1036_1061del27

1 paper

NM_005915.6

p.E333K

c.997G>A

2 papers

NM_005915.6

p.Q320*

c.958C>T

1 paper

NM_005915.6

p.G312V

c.935G>T

1 paper

NM_005915.6

p.G311E

c.932G>A

1 paper

NM_005915.6

p.T306I

c.917C>T

2 papers

NM_005915.6

p.P305S

c.913C>T

1 paper

NM_005915.6

p.A304V

c.911C>T

1 paper

NM_005915.6

p.V303I

c.907G>A

1 paper

NM_005915.6

p.L284F

c.850C>T

1 paper

NM_005915.6

p.R269H

c.806G>A