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

1 paper

NM_004526.4

p.S530L

c.1589C>T

Surrounding Variants

1 paper

NM_004526.4

p.C522C

c.1566C>T

1 paper

NM_004526.4

p.T546A

c.1636A>G

1 paper

NM_004526.4

p.R514C

c.1540C>T

1 paper

NM_004526.4

p.A553P

c.1657G>C

1 paper

NM_004526.4

p.R562Q

c.1685G>A

1 paper

NM_004526.4

p.A575V

c.1724C>T

1 paper

NM_004526.4

p.A579G

c.1736C>G

1 paper

NM_004526.4

p.R581*

c.1741C>T

1 paper

NM_004526.4

p.R581P

c.1742G>C

1 paper

NM_004526.4

p.S619Y

c.1856C>A

1 paper

NM_004526.4

p.S619F

c.1856C>T

2 papers

NM_004526.4

p.A630T

c.1888G>A