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

4 papers

NM_018518.5

p.R582*

c.1744C>T

Surrounding Variants

1 paper

NM_018518.5

p.G543Splc

c.1627+6A>G

2 papers

NM_018518.5

p.T540S

c.1618A>T

1 paper

NM_018518.5

p.M522I

c.1566G>A

1 paper

NM_018518.5

p.T624M

c.1871C>T

2 papers

NM_018518.5

p.R629Q

c.1886G>A

2 papers

NM_018518.5

p.G630D

c.1889G>A

1 paper

NM_018518.5

p.V637L

c.1909G>C

1 paper

NM_018518.5

p.E451V

c.1352A>T

1 paper

NM_018518.5

p.S448R

c.1342A>C

1 paper

NM_018518.5

p.T447P

c.1339A>C

1 paper

NM_018518.5

p.P439Q

c.1316C>A

1 paper

NM_018518.5

p.Q430*

c.1288C>T