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

2 papers

NM_015425.6

p.H108Y

c.322C>T

Surrounding Variants

1 paper

NM_015425.6

p.S103S

c.309T>C

1 paper

NM_015425.6

p.S103T

c.307T>A

1 paper

NM_015425.6

p.R114P

c.341G>C

1 paper

NM_015425.6

p.R114R

c.342G>C

1 paper

NM_015425.6

p.V126F

c.376G>T

1 paper

NM_015425.6

p.E128D

c.384A>C

1 paper

NM_015425.6

p.A134A

c.402A>C

1 paper

NM_015425.6

p.L91I

c.271C>A

1 paper

NM_015425.6

p.N89S

c.266A>G

1 paper

NM_015425.6

p.L85F

c.253C>T

1 paper

NM_015425.6

p.L83L

c.249C>G

1 paper

NM_015425.6

p.E82G

c.245A>G