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.Q16L

c.47A>T

Surrounding Variants

1 paper

NM_032485.6

p.G11V

c.32G>T

1 paper

NM_032485.6

p.G7D

c.20G>A

1 paper

NM_032485.6

p.G3R

c.7G>A

2 papers

NM_032485.6

p.K30T

c.89A>C

1 paper

NM_032485.6

p.E35insFs

c.103dupG

1 paper

NM_032485.6

p.R37delFs

c.109delA

1 paper

NM_032485.6

p.R37G

c.109A>G

1 paper

NM_032485.6

p.G45_K46delFs

c.135_136delAA

1 paper

NM_032485.6

p.S49C

c.146C>G

1 paper

NM_032485.6

p.F55C

c.164T>G

1 paper

NM_032485.6

p.T59T

c.177A>G

5 papers

NM_032485.6

p.Q63K

c.187C>A