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

1–12 of 189 variants

17 papers

NM_032485.6

p.P149R

c.446C>G

15 papers

NM_032485.6

p.H161P

c.482A>C

13 papers

NM_032485.6

p.E341K

c.1021G>A

10 papers

NM_032485.6

p.K651_V652Splc

c.1954-1G>A

8 papers

NM_032485.6

p.H317L

c.950A>T

7 papers

NM_032485.6

p.T490_L491insFs

c.1470_1471insTA

6 papers

NM_032485.6

p.I138M

c.414A>G

6 papers

NM_032485.6

p.R309*

c.925C>T

5 papers

NM_032485.6

p.Q63K

c.187C>A

5 papers

NM_032485.6

p.K118fs

c.352_353fs

5 papers

NM_032485.6

p.C155Y

c.464G>A

5 papers

NM_032485.6

p.H601R

c.1802A>G