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

1–12 of 111 variants

5 papers

NM_138792.4

p.R555*

c.1663C>T

3 papers

NM_138792.4

p.G63*

c.187G>T

3 papers

NM_138792.4

p.L382fs

c.1144_1145fs

3 papers

NM_138792.4

p.R426*

c.1276C>T

2 papers

NM_138792.4

p.S41F

c.122C>T

2 papers

NM_138792.4

p.R275G

c.823A>G

2 papers

NM_138792.4

p.Q345*

c.1033C>T

2 papers

NM_138792.4

p.G370E

c.1109G>A

2 papers

NM_138792.4

p.N380delFs

c.1140delG

2 papers

NM_138792.4

p.S383I

c.1148G>T

2 papers

NM_138792.4

p.L471I

c.1411C>A

2 papers

NM_138792.4

p.P493R

c.1478C>G