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.N148S

c.443A>G

Surrounding Variants

1 paper

NM_017696.3

p.C147R

c.439T>C

1 paper

NM_017696.3

p.H152R

c.455A>G

1 paper

NM_017696.3

p.R143W

c.427C>T

1 paper

NM_017696.3

p.I156V

c.466A>G

1 paper

NM_017696.3

p.E140K

c.418G>A

1 paper

NM_017696.3

p.V138A

c.413T>C

1 paper

NM_017696.3

p.K137N

c.411G>T

1 paper

NM_017696.3

p.K137N

c.411G>C

1 paper

NM_017696.3

p.L135_V136del2

c.403_407del6

2 papers

NM_017696.3

p.E161A

c.482A>C

1 paper

NM_017696.3

p.Q162H

c.486G>T

1 paper

NM_017696.3

p.Q162H

c.486G>C