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

2 papers

NM_002388.6

p.E26_E27Splc

c.79-1G>A

Surrounding Variants

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.E26_E27Splc

c.79-6T>C

1 paper

NM_002388.6

p.Q33_K35Fs

c.98_104delinsTCCFs

1 paper

NM_002388.6

p.K35N

c.105A>T

1 paper

NM_002388.6

p.Q44_R46delFs

c.132_138del7

1 paper

NM_002388.6

p.K57*

c.169A>T

1 paper

NM_002388.6

p.E59K

c.175G>A

1 paper

NM_002388.6

p.E26_E27Splc

c.79-130G>C

1 paper

NM_002388.6

p.R64Splc

c.192-1G>A

1 paper

NM_002388.6

p.N68K

c.204T>G

1 paper

NM_002388.6

p.N68K

c.204T>A