Varaico: Literature-Extracted Genetic Variants

POLR1A

194 papers

RefSeq Summary

The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA p...

Pfam Domains

RNA_pol_Rpb1_1aa 9–357UCSCRNA polymerase Rpb1, domain 1

RNA_pol_Rpb1_2aa 434–614UCSCRNA polymerase Rpb1, domain 2

RNA_pol_Rpb1_3aa 617–802UCSCRNA polymerase Rpb1, domain 3

RNA_pol_Rpb1_4aa 837–951UCSCRNA polymerase Rpb1, domain 4

RNA_pol_Rpb1_5aa 958–1670UCSCRNA polymerase Rpb1, domain 5

Gene Aliases

HGNC Name

RNA polymerase I subunit A

HGNC Alias Symbols

DKFZP586M0122; FLJ21915; RPO1-4; RPA190

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015425.6

p.L191F

c.571C>T

Surrounding Variants

1 paper

NM_015425.6

p.S189R

c.567C>G

1 paper

NM_015425.6

p.S189R

c.567C>A

1 paper

NM_015425.6

p.S189R

c.565A>C

1 paper

NM_015425.6

p.A198E

c.593C>A

1 paper

NM_015425.6

p.V181I

c.541G>A

1 paper

NM_015425.6

p.R216*

c.646C>T

1 paper

NM_015425.6

p.I225L

c.673A>C

1 paper

NM_015425.6

p.P228L

c.683C>T

1 paper

NM_015425.6

p.A235V

c.704C>T

1 paper

NM_015425.6

p.E159A

c.476A>C

2 papers

NM_015425.6

p.R158P

c.473G>C

1 paper

NM_015425.6

p.S153P

c.457T>C