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.E380A

c.1139A>C

Surrounding Variants

1 paper

NM_004526.4

p.E380_S381delFs

c.1140_1143del4

1 paper

NM_004526.4

p.E380Q

c.1138G>C

1 paper

NM_004526.4

p.I378N

c.1133T>A

1 paper

NM_004526.4

p.R377*

c.1129C>T

1 paper

NM_004526.4

p.I376delFs

c.1126delA

1 paper

NM_004526.4

p.R375C

c.1123C>T

1 paper

NM_004526.4

p.Q371insFs

c.1113dupG

1 paper

NM_004526.4

p.R392H

c.1175G>A

1 paper

NM_004526.4

p.S393F

c.1178C>T

3 papers

NM_004526.4

p.A396T

c.1186G>A

1 paper

NM_004526.4

p.A400T

c.1198G>A

1 paper

NM_004526.4

p.G409E

c.1226G>A