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

2 papers

NM_017696.3

p.D746insFs

c.2237_2238dupAT

Surrounding Variants

3 papers

NM_017696.3

p.F747fs

c.2239_2240fs

1 paper

NM_017696.3

p.M748T

c.2243T>C

1 paper

NM_017696.3

p.D740_S741delFs

c.2220_2223del4

1 paper

NM_017696.3

p.E754A

c.2261A>C

3 papers

NM_017696.3

p.T758A

c.2272A>G

1 paper

NM_017696.3

p.Q733L

c.2198A>T

1 paper

NM_017696.3

p.S768_G769delFs

c.2303_2306del4

1 paper

NM_017696.3

p.L720_N723del4

c.2158_2168del12

2 papers

NM_017696.3

p.D715V

c.2144A>T

1 paper

NM_017696.3

p.S707fs

c.2119_2120fs

1 paper

NM_017696.3

p.G706insFs

c.2118dupC

1 paper

NM_017696.3

p.G706A

c.2117G>C