Varaico: Literature-Extracted Genetic Variants

LEO1

48 papers

RefSeq Summary

LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone ...

Pfam Domains

Leo1aa 374–536UCSCLeo1-like protein

Gene Aliases

HGNC Name

LEO1 component of Paf1/RNA polymerase II complex

HGNC Previous Names

LEO1 homolog, Paf1/RNA polymerase II complex component; Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138792.4

p.R275G

c.823A>G

Surrounding Variants

1 paper

NM_138792.4

p.D281_L284del4

c.841_851del12

1 paper

NM_138792.4

p.D299N

c.895G>A

1 paper

NM_138792.4

p.G310V

c.929G>T

1 paper

NM_138792.4

p.D320G

c.959A>G

1 paper

NM_138792.4

p.P331L

c.992C>T

1 paper

NM_138792.4

p.G335R

c.1003G>C

1 paper

NM_138792.4

p.G335R

c.1003G>A

2 papers

NM_138792.4

p.Q345*

c.1033C>T

1 paper

NM_138792.4

p.E349insFs

c.1046dupA

1 paper

NM_138792.4

p.E350fs

c.1048_1049fs

1 paper

NM_138792.4

p.I358R

c.1073T>G

2 papers

NM_138792.4

p.G370E

c.1109G>A