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

8 papers

NM_032485.6

p.H317L

c.950A>T

Surrounding Variants

1 paper

NM_032485.6

p.V316F

c.946G>T

1 paper

NM_032485.6

p.L315_V316delFs

c.945_948del4

1 paper

NM_032485.6

p.V320L

c.958G>T

6 papers

NM_032485.6

p.R309*

c.925C>T

1 paper

NM_032485.6

p.P308T

c.922C>A

1 paper

NM_032485.6

p.R306Q

c.917G>A

3 papers

NM_032485.6

p.T332A

c.994A>G

1 paper

NM_032485.6

p.G333delFs

c.998delG

2 papers

NM_032485.6

p.G333R

c.997G>A

2 papers

NM_032485.6

p.G333R

c.997G>C

2 papers

NM_032485.6

p.G333fs

c.997_998fs

1 paper

NM_032485.6

p.V337F

c.1009G>T