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

1–12 of 69 variants

4 papers

NM_018518.5

p.R426C

c.1276C>T

4 papers

NM_018518.5

p.R582*

c.1744C>T

3 papers

NM_018518.5

p.R255Splc

c.764+5G>A

3 papers

NM_018518.5

p.A417V

c.1250C>T

2 papers

NM_018518.5

p.P39L

c.116C>T

2 papers

NM_018518.5

p.G79delFs

c.236delG

2 papers

NM_018518.5

p.A194P

c.580G>C

2 papers

NM_018518.5

p.T540S

c.1618A>T

2 papers

NM_018518.5

p.R629Q

c.1886G>A

2 papers

NM_018518.5

p.G630D

c.1889G>A

2 papers

NM_018518.5

p.K668R

c.2003A>G

2 papers

NM_018518.5

p.K685R

c.2054A>G