Varaico: Literature-Extracted Genetic Variants

MCM5

138 papers

RefSeq Summary

The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the M...

Pfam Domains

MCM_Naa 32–130UCSCMCM N-terminal domain

MCM_OBaa 136–273UCSCMCM OB domain

MCMaa 318–540UCSCMCM P-loop domain

MCM_lidaa 557–648UCSCMCM AAA-lid domain

MCM5_Caa 674–732UCSCMCM5, C-terminal domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 5

HGNC Previous Symbol

CDC46

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006739.4

p.K560N

c.1680G>T

Surrounding Variants

1 paper

NM_006739.4

p.K560N

c.1680G>C

1 paper

NM_006739.4

p.K561R

c.1682A>G

1 paper

NM_006739.4

p.V568Splc

c.1703+1G>C

1 paper

NM_006739.4

p.Q546H

c.1638G>C

1 paper

NM_006739.4

p.Q546H

c.1638G>T

1 paper

NM_006739.4

p.Q546K

c.1636C>A

1 paper

NM_006739.4

p.Q546E

c.1636C>G

1 paper

NM_006739.4

p.V530_M531Splc

c.1591-3C>T

1 paper

NM_006739.4

p.E526K

c.1576G>A

1 paper

NM_006739.4

p.V520I

c.1558G>A

1 paper

NM_006739.4

p.R513C

c.1537C>T

1 paper

NM_006739.4

p.G493S

c.1477G>A