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

1 paper

NM_017696.3

p.P115delFs

c.343delG

Surrounding Variants

1 paper

NM_017696.3

p.K118fs

c.352_353fs

1 paper

NM_017696.3

p.L109Fs

c.326delinsGGAAGGTGAGCTATFs

1 paper

NM_017696.3

p.L109L

c.325C>T

1 paper

NM_017696.3

p.H122P

c.365A>C

1 paper

NM_017696.3

p.G121_H122ins1

c.363_364insACA

1 paper

NM_017696.3

p.E108V

c.323A>T

1 paper

NM_017696.3

p.E108*

c.322G>T

1 paper

NM_017696.3

p.L124ins1

c.371_372insACA

16 papers

NM_017696.3

p.R132*

c.394C>T

2 papers

NM_017696.3

p.R132Q

c.395G>A

1 paper

NM_017696.3

p.T133A

c.397A>G

1 paper

NM_017696.3

p.T133R

c.398C>G