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.S663fs

c.1987_1988fs

Surrounding Variants

1 paper

NM_017696.3

p.S663S

c.1989C>T

1 paper

NM_017696.3

p.S663F

c.1988C>T

2 papers

NM_017696.3

p.S663insFs

c.1987dupT

1 paper

NM_017696.3

p.S663fs

c.1987_1988fs

5 papers

NM_017696.3

p.R666W

c.1996C>T

1 paper

NM_017696.3

p.V660M

c.1978G>A

7 papers

NM_017696.3

p.Q658H

c.1974G>T

8 papers

NM_017696.3

p.Q658H

c.1974G>C

1 paper

NM_017696.3

p.Q658*

c.1972C>T

2 papers

NM_017696.3

p.E671*

c.2011G>T

1 paper

NM_017696.3

p.P674insFs

c.2021dupC

1 paper

NM_017696.3

p.F687L

c.2059T>C