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.V444L

c.1330G>T

Surrounding Variants

3 papers

NM_017696.3

p.V444L

c.1330G>C

1 paper

NM_017696.3

p.V444M

c.1330G>A

2 papers

NM_017696.3

p.C445Y

c.1334G>A

1 paper

NM_017696.3

p.R450G

c.1348A>G

1 paper

NM_017696.3

p.R450K

c.1349G>A

1 paper

NM_017696.3

p.T451delFs

c.1351delT

1 paper

NM_017696.3

p.D464N

c.1390G>A

7 papers

NM_017696.3

p.L475F

c.1423C>T

1 paper

NM_017696.3

p.G476S

c.1426G>A

1 paper

NM_017696.3

p.D484N

c.1450G>A

1 paper

NM_017696.3

p.L485L

c.1453C>T

1 paper

NM_017696.3

p.L490_D491insFs

c.1470_1471insTA