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.E816D

c.2448A>T

Surrounding Variants

2 papers

NM_017696.3

p.E816D

c.2448A>C

1 paper

NM_017696.3

p.S817G

c.2449A>G

1 paper

NM_017696.3

p.E805_A812del8

c.2413_2435del24

1 paper

NM_017696.3

p.R822G

c.2464A>G

2 papers

NM_017696.3

p.V808I

c.2422G>A

1 paper

NM_017696.3

p.E828K

c.2482G>A

1 paper

NM_017696.3

p.A830T

c.2488G>A

2 papers

NM_017696.3

p.P803L

c.2408C>T

1 paper

NM_017696.3

p.A829_V831delFs

c.2487_2491del5

1 paper

NM_017696.3

p.I797M

c.2391T>G

1 paper

NM_017696.3

p.K794R

c.2381A>G

1 paper

NM_017696.3

p.P789S

c.2365C>T