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.T415S

c.1243A>T

Surrounding Variants

1 paper

NM_005916.5

p.A416T

c.1246G>A

1 paper

NM_005916.5

p.E430D

c.1290G>T

1 paper

NM_005916.5

p.E430D

c.1290G>C

1 paper

NM_005916.5

p.A433A

c.1299C>A

1 paper

NM_005916.5

p.E452del1

c.1354_1355delCTC

1 paper

NM_005916.5

p.A453A

c.1359C>T

2 papers

NM_005916.5

p.E452_A453del1

c.1356_1358delGCC

1 paper

NM_005916.5

p.E452_A453del2

c.1354_1358del6

1 paper

NM_005916.5

p.T466I

c.1397C>T

1 paper

NM_005916.5

p.I469I

c.1407T>C

1 paper

NM_005916.5

p.A470S

c.1408G>T

1 paper

NM_005916.5

p.L511L

c.1533G>A