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.N304D

c.910A>G

Surrounding Variants

12 papers

NM_017696.3

p.N304S

c.911A>G

NM_001378363.1

p.N238S

c.713A>G

3 papers

NM_017696.3

p.G302*

c.904G>T

1 paper

NM_001378363.1

p.A242T

c.724G>A

1 paper

NM_017696.3

p.S309T

c.926G>C

1 paper

NM_017696.3

p.S309N

c.926G>A

1 paper

NM_017696.3

p.F315_G316delFs

c.945_948del4

1 paper

NM_017696.3

p.V320L

c.958G>T

1 paper

NM_017696.3

p.A323V

c.968C>T

1 paper

NM_017696.3

p.V324L

c.970G>T

1 paper

NM_017696.3

p.V324L

c.970G>C

1 paper

NM_017696.3

p.V351F

c.1051G>T

1 paper

NM_017696.3

p.V351_P354del4

c.1051_1061del12