Varaico: Literature-Extracted Genetic Variants

MCM10

72 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

OB_MCM10aa 249–379UCSCMCM10 OB-fold

zf-primaseaa 382–427UCSCPrimase zinc finger

zf-CCCH_Mcm10aa 524–817UCSCMcm10, CCCH-type zinc motif

Mcm10aa 818–873UCSCMcm10, C-terminal zinc binding motif

Gene Aliases

HGNC Name

minichromosome maintenance 10 replication initiation factor

HGNC Alias Symbols

PRO2249; CNA43; DNA43

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018518.5

p.A747_A749delFs

c.2239_2245del7

Surrounding Variants

1 paper

NM_018518.5

p.A747_A749del3

c.2239_2246del9

1 paper

NM_018518.5

p.K761_K762insFs

c.2283_2284insA

1 paper

NM_018518.5

p.T741K

c.2222C>A

1 paper

NM_018518.5

p.I733M

c.2199C>G

1 paper

NM_018518.5

p.L722P

c.2165T>C

1 paper

NM_018518.5

p.H806H

c.2418T>C

2 papers

NM_018518.5

p.K685R

c.2054A>G

2 papers

NM_018518.5

p.K668R

c.2003A>G

1 paper

NM_018518.5

p.V637L

c.1909G>C

2 papers

NM_018518.5

p.G630D

c.1889G>A

2 papers

NM_018518.5

p.R629Q

c.1886G>A

1 paper

NM_018518.5

p.T624M

c.1871C>T