Varaico: Literature-Extracted Genetic Variants

POLR1B

71 papers

RefSeq Summary

Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme compos...

Pfam Domains

RNA_pol_Rpb2_1aa 37–423UCSCRNA polymerase beta subunit

RNA_pol_Rpb2_2aa 186–375UCSCRNA polymerase Rpb2, domain 2

RNA_pol_Rpb2_3aa 455–520UCSCRNA polymerase Rpb2, domain 3

Gene Aliases

HGNC Name

RNA polymerase I subunit B

HGNC Alias Symbols

Rpo1-2; FLJ21921; FLJ10816; RPA135

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019014.6

p.W7C

c.21G>C

Surrounding Variants

1 paper

NM_019014.6

p.W7C

c.21G>T

1 paper

NM_019014.6

p.P3S

c.7C>T

1 paper

NM_019014.6

p.G13E

c.38G>A

1 paper

NM_019014.6

p.G25fs

c.73_74fs

1 paper

NM_019014.6

p.G25V

c.74G>T

1 paper

NM_019014.6

p.G25_A33delFs

c.75_99del25

1 paper

NM_019014.6

p.R28L

c.83G>T

1 paper

NM_019014.6

p.Q31*

c.91C>T

1 paper

NM_019014.6

p.A41E

c.122C>A

1 paper

NM_019014.6

p.N47S

c.140A>G

1 paper

NM_019014.6

p.E52K

c.154G>A

1 paper

NM_019014.6

p.Q59E

c.175C>G