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

1–12 of 172 variants

8 papers

NM_004526.4

p.R44C

c.130C>T

6 papers

NM_004526.4

p.V312L

c.934G>C

6 papers

NM_004526.4

p.V312L

c.934G>T

5 papers

NM_004526.4

p.V667M

c.1999G>A

4 papers

NM_004526.4

p.R130C

c.388C>T

3 papers

NM_004526.4

p.A396T

c.1186G>A

3 papers

NM_004526.4

p.D410D

c.1230C>T

2 papers

NM_004526.4

p.S40A

c.118T>G

2 papers

NM_004526.4

p.D68E

c.204T>A

2 papers

NM_004526.4

p.D68E

c.204T>G

2 papers

NM_004526.4

p.A148T

c.442G>A

2 papers

NM_004526.4

p.R149C

c.445C>T