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

1–12 of 97 variants

9 papers

NM_006739.4

p.T466I

c.1397C>T

3 papers

NM_006739.4

p.V258I

c.772G>A

3 papers

NM_006739.4

p.R284delFs

c.850_851delAG

2 papers

NM_006739.4

p.Q125H

c.375G>C

2 papers

NM_006739.4

p.Q125H

c.375G>T

2 papers

NM_006739.4

p.D250N

c.748G>A

2 papers

NM_006739.4

p.R284fs

c.850_851fs

1 paper

NM_006739.4

p.M1T

c.2T>C

1 paper

NM_006739.4

p.S2*

c.5C>A

1 paper

NM_006739.4

p.D13G

c.38A>G

1 paper

NM_006739.4

p.E23E

c.69G>A

1 paper

NM_006739.4

p.R27S

c.79C>A