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

4 papers

NM_004526.4

p.R130C

c.388C>T

Surrounding Variants

1 paper

NM_004526.4

p.R130S

c.388C>A

1 paper

NM_004526.4

p.R130H

c.389G>A

1 paper

NM_004526.4

p.G129A

c.386G>C

1 paper

NM_004526.4

p.G129V

c.386G>T

1 paper

NM_004526.4

p.R132H

c.395G>A

1 paper

NM_004526.4

p.R133H

c.398G>A

1 paper

NM_004526.4

p.R126Q

c.377G>A

1 paper

NM_004526.4

p.L135_L136del2

c.403_407del6

1 paper

NM_004526.4

p.R122W

c.364C>T

1 paper

NM_004526.4

p.D121_R122ins1

c.363_364insACA

1 paper

NM_004526.4

p.A112T

c.334G>A

1 paper

NM_004526.4

p.T106M

c.317C>T