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.M755_A756Splc

c.2265+14C>T

Surrounding Variants

1 paper

NM_004526.4

p.S754delFs

c.2260delT

1 paper

NM_004526.4

p.E729D

c.2187G>T

1 paper

NM_004526.4

p.Y723C

c.2168A>G

1 paper

NM_004526.4

p.M706I

c.2118G>A

1 paper

NM_004526.4

p.M706I

c.2118G>C

1 paper

NM_004526.4

p.M706I

c.2118G>T

1 paper

NM_004526.4

p.E693E

c.2079G>A

1 paper

NM_004526.4

p.V684I

c.2050G>A

1 paper

NM_004526.4

p.H683R

c.2048A>G

1 paper

NM_004526.4

p.F678_G681del4

c.2032_2042del12

5 papers

NM_004526.4

p.V667M

c.1999G>A

1 paper

NM_004526.4

p.V667fs

c.1999_2000fs