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.P1011T

c.3031C>A

Surrounding Variants

1 paper

NM_017696.3

p.A1010V

c.3029C>T

2 papers

NM_017696.3

p.E1012Q

c.3034G>C

1 paper

NM_017696.3

p.H1030D

c.3088C>G

5 papers

NM_017696.3

p.L974S

c.2921T>C

1 paper

NM_017696.3

p.G972*

c.2914G>T

2 papers

NM_017696.3

p.R970H

c.2909G>A

1 paper

NM_017696.3

p.T1054P

c.3160A>C

1 paper

NM_017696.3

p.P967P

c.2901G>A

1 paper

NM_017696.3

p.P967L

c.2900C>T

1 paper

NM_017696.3

p.L966L

c.2896T>C

1 paper

NM_017696.3

p.A1056T

c.3166G>A

1 paper

NM_017696.3

p.A964delFs

c.2892delT