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

1–12 of 87 variants

5 papers

NM_005916.5

p.Q139*

c.415C>T

4 papers

NM_005916.5

p.Y539C

c.1616A>G

3 papers

NM_005916.5

p.R527*

c.1579C>T

2 papers

NM_005916.5

p.R39W

c.115C>T

2 papers

NM_005916.5

p.R114Q

c.341G>A

2 papers

NM_005916.5

p.N144S

c.431A>G

2 papers

NM_005916.5

p.G259A

c.776G>C

2 papers

NM_005916.5

p.E452_A453del1

c.1356_1358delGCC

1 paper

NM_005916.5

p.A2E

c.5C>A

1 paper

NM_005916.5

p.L3P

c.8T>C

1 paper

NM_005916.5

p.G34R

c.100G>C

1 paper

NM_005916.5

p.G34R

c.100G>A