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.K1102ins1

c.3305_3306insGCC

Surrounding Variants

1 paper

NM_017696.3

p.L1106P

c.3317T>C

6 papers

NM_017696.3

p.M1096V

c.3286A>G

1 paper

NM_017696.3

p.S1088F

c.3263C>T

1 paper

NM_017696.3

p.G1085_P1086del2

c.3253_3257del6

1 paper

NM_017696.3

p.E1118K

c.3352G>A

1 paper

NM_017696.3

p.R1081*

c.3241C>T

3 papers

NM_017696.3

p.P1075S

c.3223C>T

3 papers

NM_017696.3

p.A1130T

c.3388G>A

4 papers

NM_017696.3

p.K1142R

c.3425A>G

1 paper

NM_017696.3

p.R1140_S1143del4

c.3418_3428del12

1 paper

NM_017696.3

p.A1056T

c.3166G>A

1 paper

NM_017696.3

p.T1054P

c.3160A>C