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.G125insFs

c.374dupG

Surrounding Variants

1 paper

NM_138792.4

p.E133*

c.397G>T

1 paper

NM_138792.4

p.A112insFs

c.334dupG

1 paper

NM_138792.4

p.A112fs

c.334_335fs

1 paper

NM_138792.4

p.D149fs

c.445_446fs

1 paper

NM_138792.4

p.D149insFs

c.446dupA

1 paper

NM_138792.4

p.H96delFs

c.286delG

1 paper

NM_138792.4

p.D95_H96Fs

c.285_286delinsTFs

1 paper

NM_138792.4

p.S94_D95delFs

c.281_284del4

1 paper

NM_138792.4

p.D155V

c.464A>T

1 paper

NM_138792.4

p.K158*

c.472A>T

1 paper

NM_138792.4

p.R87delFs

c.259delT

1 paper

NM_138792.4

p.D85N

c.253G>A