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

1 paper

NM_032485.6

p.D124ins1

c.371_372insACA

Surrounding Variants

1 paper

NM_032485.6

p.I121_L122ins1

c.363_364insACA

2 papers

NM_032485.6

p.K118fs

c.352_353fs

1 paper

NM_032485.6

p.K118E

c.352A>G

5 papers

NM_032485.6

p.K118fs

c.352_353fs

1 paper

NM_032485.6

p.R117K

c.350G>A

4 papers

NM_032485.6

p.R117_K118delFs

c.351_354del4

1 paper

NM_032485.6

p.E114K

c.340G>A

1 paper

NM_032485.6

p.I115delFs

c.343delA

1 paper

NM_032485.6

p.T135_N136del2

c.403_407del6

1 paper

NM_032485.6

p.T135A

c.403A>G

6 papers

NM_032485.6

p.I138M

c.414A>G

4 papers

NM_032485.6

p.I141V

c.421A>G