Varaico: Literature-Extracted Genetic Variants

MCM4

185 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein...

Pfam Domains

MCM_Naa 163–264UCSCMCM N-terminal domain

MCM_OBaa 270–398UCSCMCM OB domain

MCMaa 445–670UCSCMCM P-loop domain

MCM_lidaa 685–769UCSCMCM AAA-lid domain

WHD_MCM4aa 792–862UCSCMCM4, winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 4

HGNC Previous Symbol

CDC21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_182746.3

p.R172H

c.515G>A

Surrounding Variants

1 paper

NM_182746.3

p.R172C

c.514C>T

1 paper

NM_182746.3

p.N201D

c.601A>G

1 paper

NM_182746.3

p.H214insFs

c.642dupC

1 paper

NM_182746.3

p.H214H

c.642C>T

1 paper

NM_182746.3

p.D219E

c.657C>A

1 paper

NM_182746.3

p.D219E

c.657C>G

3 papers

NM_182746.3

p.K163E

c.487A>G

1 paper

NM_182746.3

p.I152T

c.455T>C

1 paper

NM_182746.3

p.L146L

c.438A>G

1 paper

NM_182746.3

p.S142N

c.425G>A

1 paper

NM_182746.3

p.S142fs

c.424_425fs

1 paper

NM_182746.3

p.A141G

c.422C>G