Varaico: Literature-Extracted Genetic Variants

MCM7

118 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 10–140UCSCMCM N-terminal domain

MCM_OBaa 148–281UCSCMCM OB domain

MCMaa 320–541UCSCMCM P-loop domain

MCM_lidaa 557–641UCSCMCM AAA-lid domain

WHD_MCM7aa 663–719UCSCDNA replication licensing factor MCM7, winged helix

Gene Aliases

HGNC Name

minichromosome maintenance complex component 7

HGNC Alias Symbols

CDC47; PPP1R104

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005916.5

p.F232L

c.694T>C

Surrounding Variants

1 paper

NM_005916.5

p.Q233_E234insT

c.697_701ins3

1 paper

NM_005916.5

p.L222L

c.666G>A

1 paper

NM_005916.5

p.S216L

c.647C>T

1 paper

NM_005916.5

p.Q212L

c.635A>T

1 paper

NM_001278595.2

p.P26L

c.77C>T

1 paper

NM_005916.5

p.F200del1

c.598_599delGAA

1 paper

NM_005916.5

p.Q196*

c.586C>T

1 paper

NM_005916.5

p.T254M

c.761C>T

2 papers

NM_005916.5

p.G259A

c.776G>C

1 paper

NM_005916.5

p.A265T

c.793G>A

1 paper

NM_005916.5

p.P267L

c.800C>T

1 paper

NM_005916.5

p.V273I

c.817G>A