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

3 papers

NM_017696.3

p.S898F

c.2693C>T

Surrounding Variants

1 paper

NM_017696.3

p.L899V

c.2695C>G

1 paper

NM_017696.3

p.S890P

c.2668T>C

4 papers

NM_017696.3

p.M887R

c.2660T>G

1 paper

NM_017696.3

p.V910L

c.2728G>C

1 paper

NM_017696.3

p.D885Y

c.2653G>T

1 paper

NM_017696.3

p.K922N

c.2766A>T

1 paper

NM_017696.3

p.K922N

c.2766A>C

1 paper

NM_017696.3

p.C860C

c.2580C>T

1 paper

NM_017696.3

p.E854_R855delFs

c.2562_2563delTC

1 paper

NM_017696.3

p.L848L

c.2544G>T

1 paper

NM_017696.3

p.A945_I948del4

c.2833_2843del12

1 paper

NM_017696.3

p.D963D

c.2889C>T