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.K622_D623Splc

c.1866+3A>G

Surrounding Variants

1 paper

NM_015425.6

p.R605Q

c.1814G>A

1 paper

NM_015425.6

p.P599S

c.1795C>T

1 paper

NM_015425.6

p.P599T

c.1795C>A

1 paper

NM_015425.6

p.M594I

c.1782G>T

1 paper

NM_015425.6

p.M594I

c.1782G>C

1 paper

NM_015425.6

p.M594I

c.1782G>A

5 papers

NM_015425.6

p.E593Q

c.1777G>C

1 paper

NM_015425.6

p.H578Q

c.1734C>G

1 paper

NM_015425.6

p.H578Q

c.1734C>A

1 paper

NM_015425.6

p.R576Q

c.1727G>A

1 paper

NM_015425.6

p.E572insFs

c.1715_1716insCA

1 paper

NM_015425.6

p.R567H

c.1700G>A