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.G273Splc

c.818-2A>C

Surrounding Variants

2 papers

NM_015425.6

p.L279F

c.835C>T

1 paper

NM_015425.6

p.S281S

c.843G>A

1 paper

NM_015425.6

p.R291*

c.871A>T

1 paper

NM_015425.6

p.F301S

c.902T>C

1 paper

NM_015425.6

p.P306L

c.917C>T

1 paper

NM_015425.6

p.R310C

c.928C>T

1 paper

NM_015425.6

p.R314H

c.941G>A

1 paper

NM_015425.6

p.N327Y

c.979A>T

1 paper

NM_015425.6

p.V336L

c.1006G>C

1 paper

NM_015425.6

p.V355insFs

c.1063dupG

1 paper

NM_015425.6

p.E362_E363Splc

c.1086+27A>G

1 paper

NM_015425.6

p.E272delFs

c.815_816delTT