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.S219F

c.656C>T

Surrounding Variants

1 paper

NM_017696.3

p.R218*

c.652C>T

1 paper

NM_017696.3

p.K221N

c.663G>T

1 paper

NM_017696.3

p.G214_S215delFs

c.640_643del4

1 paper

NM_017696.3

p.L224fs

c.670_671fs

1 paper

NM_017696.3

p.E225*

c.673G>T

1 paper

NM_017696.3

p.E225K

c.673G>A

6 papers

NM_017696.3

p.L224_E225Fs

c.672_673delinsCFs

6 papers

NM_017696.3

p.E225fs

c.673_674fs

2 papers

NM_017696.3

p.E225fs

c.673_674fs

1 paper

NM_017696.3

p.S212F

c.635C>T

1 paper

NM_017696.3

p.L211L

c.631C>T

1 paper

NM_017696.3

p.V208_Q209del2

c.622_626del6