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.R504H

c.1511G>A

Surrounding Variants

1 paper

NM_015425.6

p.L507L

c.1519C>T

1 paper

NM_015425.6

p.M496I

c.1488G>T

1 paper

NM_015425.6

p.M496I

c.1488G>C

1 paper

NM_015425.6

p.M496I

c.1488G>A

1 paper

NM_015425.6

p.A494S

c.1480G>T

1 paper

NM_015425.6

p.E516Q

c.1546G>C

1 paper

NM_015425.6

p.V518M

c.1552G>A

1 paper

NM_015425.6

p.A483V

c.1448C>T

1 paper

NM_015425.6

p.Y468C

c.1403A>G

1 paper

NM_015425.6

p.M460_V461Splc

c.1381-26T>C

1 paper

NM_015425.6

p.M460R

c.1379T>G

1 paper

NM_015425.6

p.N454S

c.1361A>G