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

3 papers

NM_015425.6

p.Q1217delFs

c.3649delG

Surrounding Variants

2 papers

NM_015425.6

p.Q1217fs

c.3649_3650fs

1 paper

NM_015425.6

p.A1215_A1216ins4

c.3643_3647ins12

1 paper

NM_015425.6

p.I1219I

c.3657C>T

1 paper

NM_015425.6

p.R1202C

c.3604C>T

1 paper

NM_015425.6

p.V1241I

c.3721G>A

1 paper

NM_015425.6

p.R1287W

c.3859A>T

1 paper

NM_015425.6

p.D1190N

c.3568G>A

1 paper

NM_015425.6

p.R1151H

c.3452G>A

1 paper

NM_015425.6

p.R1151C

c.3451C>T

1 paper

NM_015425.6

p.R1151S

c.3451C>A

4 papers

NM_015425.6

p.A1141T

c.3421G>A

1 paper

NM_015425.6

p.A1140T

c.3418G>A