Varaico: Literature-Extracted Genetic Variants

MCM2

205 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

MCM2_Naa 51–182UCSCMini-chromosome maintenance protein 2

MCM_Naa 196–287UCSCMCM N-terminal domain

MCM_OBaa 293–422UCSCMCM OB domain

MCMaa 460–683UCSCMCM P-loop domain

MCM_lidaa 718–802UCSCMCM AAA-lid domain

WHD_MCM2aa 826–900UCSCDNA replication licensing factor MCM2-like, winged-helix domain

Gene Aliases

HGNC Name

minichromosome maintenance complex component 2

HGNC Previous Symbol

CDCL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_004526.4

p.V312L

c.934G>C

Surrounding Variants

6 papers

NM_004526.4

p.V312L

c.934G>T

1 paper

NM_004526.4

p.T313N

c.938C>A

1 paper

NM_004526.4

p.S314R

c.940A>C

1 paper

NM_004526.4

p.S314R

c.942C>A

1 paper

NM_004526.4

p.S314R

c.942C>G

1 paper

NM_004526.4

p.C315_T316delFs

c.945_948del4

1 paper

NM_004526.4

p.R307S

c.919C>A

1 paper

NM_004526.4

p.G317G

c.951C>T

1 paper

NM_004526.4

p.Q304R

c.911A>G

1 paper

NM_004526.4

p.K331insFs

c.993dupG

1 paper

NM_004526.4

p.N333S

c.998A>G

1 paper

NM_004526.4

p.V335F

c.1003G>T