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.E619E

c.1857A>G

Surrounding Variants

1 paper

NM_002388.6

p.E619K

c.1855G>A

1 paper

NM_002388.6

p.D641Y

c.1921G>T

1 paper

NM_002388.6

p.E683V

c.2048A>T

1 paper

NM_002388.6

p.S605S

c.1815A>C

1 paper

NM_002388.6

p.I590L

c.1768A>C

1 paper

NM_002388.6

p.K576insFs

c.1726dupA

1 paper

NM_002388.6

p.G554G

c.1662G>T

1 paper

NM_002388.6

p.L552Fs

c.1656delinsACFs

2 papers

NM_002388.6

p.Q540*

c.1618C>T

1 paper

NM_002388.6

p.V524M

c.1570G>A

1 paper

NM_002388.6

p.A517Fs

c.1551delinsACFs

1 paper

NM_002388.6

p.K745R

c.2234A>G