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.R513C

c.1537C>T

Surrounding Variants

1 paper

NM_006739.4

p.V520I

c.1558G>A

1 paper

NM_006739.4

p.E526K

c.1576G>A

1 paper

NM_006739.4

p.G493S

c.1477G>A

1 paper

NM_006739.4

p.V484I

c.1450G>A

1 paper

NM_006739.4

p.I474T

c.1421T>C

9 papers

NM_006739.4

p.T466I

c.1397C>T

1 paper

NM_006739.4

p.V456M

c.1366G>A

1 paper

NM_006739.4

p.D454N

c.1360G>A

1 paper

NM_006739.4

p.E430D

c.1290G>T

1 paper

NM_006739.4

p.S417L

c.1250C>T

1 paper

NM_006739.4

p.S410S

c.1230C>T

1 paper

NM_006739.4

p.V530_M531Splc

c.1591-3C>T