Varaico: Literature-Extracted Genetic Variants

MCM9

129 papers

RefSeq Summary

The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to ...

Pfam Domains

MCM9_Naa 3–104UCSCMCM9, N-terminal domain

MCM_OBaa 114–247UCSCMCM OB domain

MCMaa 294–509UCSCMCM P-loop domain

MCM_lidaa 522–604UCSCMCM AAA-lid domain

Gene Aliases

HGNC Name

minichromosome maintenance 9 homologous recombination repair factor

HGNC Previous Symbols

MCMDC1; C6orf61

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

15 papers

NM_017696.3

p.A578Splc

c.1732+2T>C

Surrounding Variants

1 paper

NM_001378367.1

p.R508Q

c.1523G>A

1 paper

NM_017696.3

p.R574*

c.1720C>T

1 paper

NM_017696.3

p.R563W

c.1687C>T

1 paper

NM_017696.3

p.R559W

c.1675C>T

3 papers

NM_017696.3

p.C558S

c.1673G>C

3 papers

NM_017696.3

p.C558S

c.1672T>A

1 paper

NM_017696.3

p.Q551R

c.1652A>G

5 papers

NM_017696.3

p.Q551*

c.1651C>T

4 papers

NM_017696.3

p.R548W

c.1642C>T

4 papers

NM_017696.3

p.L547P

c.1640T>C

2 papers

NM_017696.3

p.I531T

c.1592T>C

1 paper

NM_017696.3

p.L518F

c.1552C>T