Varaico: Literature-Extracted Genetic Variants

MCM8

129 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

MCM8_Naa 93–201UCSCMCM8, N-terminal domain

MCM_OBaa 206–339UCSCMCM OB domain

MCMaa 389–613UCSCMCM P-loop domain

MCM_lidaa 664–748UCSCMCM AAA-lid domain

WHD_MCM8aa 760–839UCSCMCM8 winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance 8 homologous recombination repair factor

HGNC Previous Symbol

C20orf154

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_032485.6

p.H601R

c.1802A>G

Surrounding Variants

1 paper

NM_032485.6

p.H601del1

c.1801_1803delCAT

1 paper

NM_032485.6

p.L605F

c.1813C>T

1 paper

NM_032485.6

p.R586K

c.1757G>A

1 paper

NM_032485.6

p.M579I

c.1737G>A

1 paper

NM_032485.6

p.M579I

c.1737G>C

1 paper

NM_032485.6

p.M579I

c.1737G>T

1 paper

NM_032485.6

p.K578Splc

c.1734-1G>A

2 papers

NM_032485.6

p.N629S

c.1886A>G

3 papers

NM_182802.3

p.K635_V636Splc

c.1905+1G>C

NM_032485.6

p.K651_V652Splc

c.1953+1G>C

10 papers

NM_032485.6

p.K651_V652Splc

c.1954-1G>A

3 papers

NM_032485.6

p.V652fs

c.1954_1955fs

1 paper

NM_032485.6

p.V652V

c.1956G>T