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.S258G

c.772A>G

Surrounding Variants

1 paper

NM_019014.6

p.N280D

c.838A>G

1 paper

NM_019014.6

p.Q284H

c.852G>C

1 paper

NM_019014.6

p.Q284H

c.852G>T

5 papers

NM_019014.6

p.S295L

c.884C>T

1 paper

NM_019014.6

p.V310I

c.928G>A

1 paper

NM_019014.6

p.E321K

c.961G>A

1 paper

NM_019014.6

p.F245V

c.733T>G

1 paper

NM_019014.6

p.S220F

c.659C>T

1 paper

NM_019014.6

p.P196Q

c.587C>A

1 paper

NM_019014.6

p.N188S

c.563A>G

1 paper

NM_019014.6

p.E164_E165Splc

c.492+6G>C

1 paper

NM_019014.6

p.A163T

c.487G>A