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.I390T

c.1169T>C

Surrounding Variants

1 paper

NM_015425.6

p.S396N

c.1187G>A

1 paper

NM_015425.6

p.H397insFs

c.1190dupA

1 paper

NM_015425.6

p.S382C

c.1145C>G

1 paper

NM_015425.6

p.N399S

c.1196A>G

1 paper

NM_015425.6

p.K408R

c.1223A>G

1 paper

NM_015425.6

p.R372*

c.1114C>T

1 paper

NM_015425.6

p.S366F

c.1097C>T

3 papers

NM_015425.6

p.K364E

c.1090A>G

1 paper

NM_015425.6

p.E363E

c.1089A>G

1 paper

NM_015425.6

p.E363V

c.1088A>T

1 paper

NM_015425.6

p.E362_E363Splc

c.1087-15G>A

1 paper

NM_015425.6

p.R429Q

c.1286G>A