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

3 papers

NM_032485.6

p.C351_L354del4

c.1051_1061del12

Surrounding Variants

1 paper

NM_032485.6

p.N346K

c.1038T>A

1 paper

NM_032485.6

p.R345Q

c.1034G>A

1 paper

NM_032485.6

p.Y356fs

c.1066_1067fs

1 paper

NM_032485.6

p.Y356delFs

c.1067delA

1 paper

NM_032485.6

p.I362delFs

c.1085_1086delTT

1 paper

NM_032485.6

p.G367delFs

c.1100delG

1 paper

NM_032485.6

p.K371delFs

c.1111_1112delAA

1 paper

NM_032485.6

p.K371fs

c.1111_1112fs

1 paper

NM_032485.6

p.K371insFs

c.1113dupG

1 paper

NM_032485.6

p.K371T

c.1112A>C

1 paper

NM_032485.6

p.G376delFs

c.1126delG

1 paper

NM_032485.6

p.G380_M381delFs

c.1140_1143del4