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

5 papers

NM_138792.4

p.R555*

c.1663C>T

Surrounding Variants

2 papers

NM_138792.4

p.R554C

c.1660C>T

1 paper

NM_138792.4

p.R548C

c.1642C>T

1 paper

NM_138792.4

p.R563W

c.1687C>T

1 paper

NM_138792.4

p.E541_R542del2

c.1621_1625del6

1 paper

NM_138792.4

p.A567T

c.1699G>A

1 paper

NM_138792.4

p.R542_L543insFs

c.1626_1627insA

1 paper

NM_138792.4

p.R542L

c.1625G>T

1 paper

NM_138792.4

p.R542C

c.1624C>T

1 paper

NM_138792.4

p.R542G

c.1624C>G

1 paper

NM_138792.4

p.R542S

c.1624C>A

1 paper

NM_138792.4

p.P572S

c.1714C>T

1 paper

NM_138792.4

p.R574*

c.1720C>T