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

4 papers

NM_032485.6

p.I141V

c.421A>G

Surrounding Variants

1 paper

NM_032485.6

p.A142T

c.424G>A

1 paper

NM_032485.6

p.A142V

c.425C>T

6 papers

NM_032485.6

p.I138M

c.414A>G

1 paper

NM_032485.6

p.L145_A148del0

c.434_442del9

1 paper

NM_032485.6

p.T135A

c.403A>G

1 paper

NM_032485.6

p.T135_N136del2

c.403_407del6

17 papers

NM_032485.6

p.P149R

c.446C>G

5 papers

NM_032485.6

p.C155Y

c.464G>A

2 papers

NM_032485.6

p.M156V

c.466A>G

1 paper

NM_032485.6

p.D124ins1

c.371_372insACA

1 paper

NM_032485.6

p.I121_L122ins1

c.363_364insACA

15 papers

NM_032485.6

p.H161P

c.482A>C