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.S934L

c.2801C>T

Surrounding Variants

1 paper

NM_015425.6

p.F938L

c.2812T>C

1 paper

NM_015425.6

p.F938L

c.2814T>G

1 paper

NM_015425.6

p.F938L

c.2814T>A

1 paper

NM_015425.6

p.E942K

c.2824G>A

1 paper

NM_015425.6

p.R954G

c.2860A>G

1 paper

NM_015425.6

p.L956L

c.2868C>T

2 papers

NM_015425.6

p.T957T

c.2871C>T

1 paper

NM_015425.6

p.C968R

c.2902T>C

1 paper

NM_015425.6

p.T982P

c.2944A>C

1 paper

NM_015425.6

p.R990Splc

c.2969+92C>T

1 paper

NM_015425.6

p.Q911_I912Splc

c.2733+164A>G

1 paper

NM_015425.6

p.N1043Y

c.3127A>T