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.A132S

c.394G>T

Surrounding Variants

1 paper

NM_006739.4

p.K129R

c.386A>G

2 papers

NM_006739.4

p.Q125H

c.375G>C

2 papers

NM_006739.4

p.Q125H

c.375G>T

1 paper

NM_006739.4

p.E118D

c.354G>C

1 paper

NM_006739.4

p.E118D

c.354G>T

1 paper

NM_006739.4

p.V106I

c.316G>A

1 paper

NM_006739.4

p.L98_L99Splc

c.294+3G>T

1 paper

NM_006739.4

p.H95L

c.284A>T

1 paper

NM_006739.4

p.L88F

c.264G>C

1 paper

NM_006739.4

p.L88F

c.264G>T

1 paper

NM_006739.4

p.D81G

c.242A>G

1 paper

NM_006739.4

p.H62Q

c.186T>A