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

2 papers

NM_004526.4

p.S40A

c.118T>G

Surrounding Variants

1 paper

NM_004526.4

p.T39I

c.116C>T

1 paper

NM_004526.4

p.A37T

c.109G>A

8 papers

NM_004526.4

p.R44C

c.130C>T

1 paper

NM_004526.4

p.D45N

c.133G>A

1 paper

NM_004526.4

p.D45_L46delFs

c.135_136delCC

1 paper

NM_004526.4

p.R34C

c.100C>T

1 paper

NM_004526.4

p.R33Q

c.98G>A

1 paper

NM_004526.4

p.R33W

c.97C>T

1 paper

NM_004526.4

p.P28insFs

c.82dupC

1 paper

NM_004526.4

p.S53A

c.157T>G

1 paper

NM_004526.4

p.T59_E64delFs

c.176_191del16

1 paper

NM_004526.4

p.T59T

c.177A>G