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.Y676F

c.2027A>T

Surrounding Variants

1 paper

NM_032485.6

p.Y678_L681del4

c.2032_2042del12

1 paper

NM_032485.6

p.R674_Q675delFs

c.2022_2025del4

2 papers

NM_032485.6

p.G671V

c.2012G>T

1 paper

NM_032485.6

p.G671C

c.2011G>T

1 paper

NM_032485.6

p.K668_Y669Fs

c.2002_2006delinsAGAFs

1 paper

NM_032485.6

p.R687*

c.2059C>T

1 paper

NM_032485.6

p.H663H

c.1989C>T

1 paper

NM_032485.6

p.P660insFs

c.1978_1979insT

1 paper

NM_032485.6

p.V653V

c.1959T>C

1 paper

NM_032485.6

p.V652V

c.1956G>T

3 papers

NM_032485.6

p.V652fs

c.1954_1955fs

1 paper

NM_032485.6

p.Q701E

c.2101C>G