Varaico: Literature-Extracted Genetic Variants

MCM3

127 papers

RefSeq Summary

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein c...

Pfam Domains

MCM_Naa 16–104UCSCMCM N-terminal domain

MCM_OBaa 110–245UCSCMCM OB domain

MCMaa 280–505UCSCMCM P-loop domain

MCM_lidaa 520–607UCSCMCM AAA-lid domain

MCM_lidaa 566–653UCSCMCM AAA-lid domain

WHD_MCM3_Caa 691–762UCSCMCM3-like, winged helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 3

HGNC Previous Names

minichromosome maintenance deficient (S. cerevisiae) 3; MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 84 variants

2 papers

NM_002388.6

p.E26_E27Splc

c.79-1G>A

2 papers

NM_002388.6

p.G246E

c.737G>A

2 papers

NM_002388.6

p.S288C

c.862A>T

2 papers

NM_002388.6

p.Q540*

c.1618C>T

2 papers

NM_002388.6

p.E619E

c.1857A>G

1 paper

NM_002388.6

p.A2A

c.6G>T

1 paper

NM_002388.6

p.L20M

c.58C>A

1 paper

NM_002388.6

p.E26_E27Splc

c.79-130G>C

1 paper

NM_002388.6

p.E26_E27Splc

c.79-6T>C

1 paper

NM_002388.6

p.E26_E27Splc

c.79-1G>T

1 paper

NM_002388.6

p.E27_D28insG

c.79_83ins3

1 paper

NM_002388.6

p.Q33_K35Fs

c.98_104delinsTCCFs