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.A160V

c.479C>T

Surrounding Variants

1 paper

NM_006739.4

p.A158V

c.473C>T

1 paper

NM_006739.4

p.K164R

c.491A>G

1 paper

NM_006739.4

p.R167H

c.500G>A

1 paper

NM_006739.4

p.I170N

c.509T>A

1 paper

NM_006739.4

p.V149L

c.445G>C

1 paper

NM_006739.4

p.V149L

c.445G>T

1 paper

NM_006739.4

p.R173L

c.518G>T

1 paper

NM_006739.4

p.T180S

c.538A>T

1 paper

NM_006739.4

p.T180S

c.539C>G

1 paper

NM_006739.4

p.I182I

c.546T>A

1 paper

NM_006739.4

p.R185C

c.553C>T

1 paper

NM_006739.4

p.P186S

c.556C>T