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.T487M

c.1460C>T

Surrounding Variants

2 papers

NM_138792.4

p.L471I

c.1411C>A

1 paper

NM_138792.4

p.H468R

c.1403A>G

1 paper

NM_138792.4

p.L464L

c.1390C>T

1 paper

NM_138792.4

p.P463Q

c.1388C>A

1 paper

NM_138792.4

p.K461R

c.1382A>G

1 paper

NM_138792.4

p.D458H

c.1372G>C

1 paper

NM_138792.4

p.E455*

c.1363G>T

1 paper

NM_138792.4

p.E455K

c.1363G>A

2 papers

NM_138792.4

p.P493R

c.1478C>G

1 paper

NM_138792.4

p.T500I

c.1499C>T

1 paper

NM_138792.4

p.S507P

c.1519T>C

1 paper

NM_138792.4

p.A524T

c.1570G>A