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

2 papers

NM_005916.5

p.N144S

c.431A>G

Surrounding Variants

1 paper

NM_005916.5

p.G140R

c.418G>C

5 papers

NM_005916.5

p.Q139*

c.415C>T

1 paper

NM_005916.5

p.E151delFs

c.452_453delTT

1 paper

NM_005916.5

p.V152Fs

c.456delinsATFs

1 paper

NM_005916.5

p.K159N

c.477G>T

1 paper

NM_005916.5

p.K159N

c.477G>C

1 paper

NM_005916.5

p.S171F

c.512C>T

1 paper

NM_005916.5

p.A128T

c.382G>A

1 paper

NM_005916.5

p.P122R

c.365C>G

1 paper

NM_005916.5

p.R120R

c.360A>T

2 papers

NM_005916.5

p.R114Q

c.341G>A

1 paper

NM_005916.5

p.Q111L

c.332A>T