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.A2E

c.5C>A

Surrounding Variants

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

1 paper

NM_005916.5

p.L37_V38Splc

c.112-29G>A

2 papers

NM_005916.5

p.R39W

c.115C>T

1 paper

NM_005916.5

p.D59N

c.175G>A

1 paper

NM_005916.5

p.A70S

c.208G>T

1 paper

NM_005916.5

p.R72C

c.214C>T

1 paper

NM_005916.5

p.A74fs

c.220_221fs

1 paper

NM_005916.5

p.A78V

c.233C>T

1 paper

NM_005916.5

p.A78insFs

c.233_234insT

1 paper

NM_005916.5

p.A78fs

c.232_233fs