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.E184K

c.550G>A

Surrounding Variants

2 papers

NM_004526.4

p.R183C

c.547C>T

1 paper

NM_004526.4

p.K178Q

c.532A>C

1 paper

NM_004526.4

p.P191S

c.571C>T

1 paper

NM_004526.4

p.P191L

c.572C>T

1 paper

NM_004526.4

p.R192Q

c.575G>A

2 papers

NM_004526.4

p.I168I

c.504C>T

1 paper

NM_004526.4

p.M167V

c.499A>G

1 paper

NM_004526.4

p.D160D

c.480C>T

1 paper

NM_004526.4

p.V214V

c.642C>A

1 paper

NM_004526.4

p.R151P

c.452G>C

2 papers

NM_004526.4

p.R149C

c.445C>T

2 papers

NM_004526.4

p.A148T

c.442G>A