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

Selected Variant

1 paper

NM_002388.6

p.S253P

c.757T>C

Surrounding Variants

2 papers

NM_002388.6

p.G246E

c.737G>A

1 paper

NM_002388.6

p.L244F

c.730C>T

1 paper

NM_002388.6

p.R234W

c.700C>T

1 paper

NM_002388.6

p.D233N

c.697G>A

1 paper

NM_002388.6

p.S216_V217insA

c.646_650ins3

1 paper

NM_002388.6

p.M204I

c.612G>T

1 paper

NM_002388.6

p.M204I

c.612G>C

1 paper

NM_002388.6

p.M204I

c.612G>A

1 paper

NM_002388.6

p.T198A

c.592A>G

1 paper

NM_002388.6

p.L260V

c.778C>G

2 papers

NM_002388.6

p.S288C

c.862A>T

1 paper

NM_002388.6

p.S302fs

c.904_905fs