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.L83L

c.249C>G

Surrounding Variants

1 paper

NM_015425.6

p.L85F

c.253C>T

1 paper

NM_015425.6

p.E82G

c.245A>G

1 paper

NM_015425.6

p.N89S

c.266A>G

1 paper

NM_015425.6

p.L91I

c.271C>A

1 paper

NM_015425.6

p.C64Y

c.191G>A

1 paper

NM_015425.6

p.C64delFs

c.190delA

1 paper

NM_015425.6

p.C64fs

c.190_191fs

1 paper

NM_015425.6

p.E62G

c.185A>G

1 paper

NM_015425.6

p.L55V

c.163T>G

1 paper

NM_015425.6

p.A54S

c.160G>T

1 paper

NM_015425.6

p.A47G

c.140C>G

1 paper

NM_015425.6

p.S46L

c.137C>T