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.R1151H

c.3452G>A

Surrounding Variants

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

1 paper

NM_015425.6

p.R1132L

c.3395G>T

1 paper

NM_015425.6

p.D1128V

c.3383A>T

1 paper

NM_015425.6

p.D1190N

c.3568G>A

1 paper

NM_015425.6

p.N1109fs

c.3325_3326fs

1 paper

NM_015425.6

p.L1103P

c.3308T>C

1 paper

NM_015425.6

p.E1098G

c.3293A>G

1 paper

NM_015425.6

p.S1091N

c.3272G>A

1 paper

NM_015425.6

p.A1088T

c.3262G>A