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

1 paper

NM_138792.4

p.Q195*

c.583C>T

Surrounding Variants

1 paper

NM_138792.4

p.R193R

c.579G>A

1 paper

NM_138792.4

p.E200K

c.598G>A

1 paper

NM_138792.4

p.E200delFs

c.599delT

1 paper

NM_138792.4

p.R201T

c.602G>C

1 paper

NM_138792.4

p.Q203*

c.607C>T

1 paper

NM_138792.4

p.K184T

c.551A>C

1 paper

NM_138792.4

p.E206K

c.616G>A

1 paper

NM_138792.4

p.E208*

c.622G>T

1 paper

NM_138792.4

p.D181delFs

c.541_542delTC

1 paper

NM_138792.4

p.D181N

c.541G>A

1 paper

NM_138792.4

p.S212F

c.635C>T

1 paper

NM_138792.4

p.S212delFs

c.635delG