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.K108E

c.322A>G

Surrounding Variants

1 paper

NM_005915.6

p.D116_P118del0

c.346_354del9

1 paper

NM_005915.6

p.R120S

c.360A>T

1 paper

NM_005915.6

p.R120fs

c.358_359fs

1 paper

NM_005915.6

p.A93D

c.278C>A

1 paper

NM_005915.6

p.R92Q

c.275G>A

5 papers

NM_005915.6

p.R92W

c.274C>T

1 paper

NM_005915.6

p.V86A

c.257T>C

1 paper

NM_005915.6

p.I123S

c.368T>G

1 paper

NM_005915.6

p.R136H

c.407G>A

1 paper

NM_005915.6

p.Q140H

c.420G>C

1 paper

NM_005915.6

p.V147F

c.439G>T

2 papers

NM_005915.6

p.P149S

c.445C>T