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

5 papers

NM_004526.4

p.V667M

c.1999G>A

Surrounding Variants

1 paper

NM_004526.4

p.V667fs

c.1999_2000fs

1 paper

NM_004526.4

p.V663G

c.1988T>G

1 paper

NM_004526.4

p.R656C

c.1966C>T

1 paper

NM_004526.4

p.E651A

c.1952A>C

1 paper

NM_004526.4

p.S644F

c.1931C>T

2 papers

NM_004526.4

p.A630T

c.1888G>A

1 paper

NM_004526.4

p.S619Y

c.1856C>A

1 paper

NM_004526.4

p.S619F

c.1856C>T

1 paper

NM_004526.4

p.F678_G681del4

c.2032_2042del12

1 paper

NM_004526.4

p.R581P

c.1742G>C

1 paper

NM_004526.4

p.R581*

c.1741C>T

1 paper

NM_004526.4

p.A579G

c.1736C>G