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.R204H

c.611G>A

Surrounding Variants

1 paper

NM_006739.4

p.Y212F

c.635A>T

1 paper

NM_006739.4

p.I214I

c.642C>A

1 paper

NM_006739.4

p.V222M

c.664G>A

1 paper

NM_006739.4

p.D223delFs

c.667delG

1 paper

NM_006739.4

p.H238Y

c.712C>T

1 paper

NM_006739.4

p.G239R

c.715G>A

2 papers

NM_006739.4

p.D250N

c.748G>A

1 paper

NM_006739.4

p.T199Splc

c.596+1G>C

1 paper

NM_006739.4

p.N198N

c.594C>T

1 paper

NM_006739.4

p.P186L

c.557C>T

1 paper

NM_006739.4

p.P186S

c.556C>T

1 paper

NM_006739.4

p.R185C

c.553C>T