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

1–12 of 74 variants

5 papers

NM_019014.6

p.S295L

c.884C>T

3 papers

NM_019014.6

p.S682R

c.2044A>C

3 papers

NM_019014.6

p.S682R

c.2046T>A

3 papers

NM_019014.6

p.S682R

c.2046T>G

3 papers

NM_019014.6

p.R1003S

c.3007C>A

3 papers

NM_019014.6

p.R1003C

c.3007C>T

2 papers

NM_019014.6

p.G538R

c.1612G>A

2 papers

NM_019014.6

p.G538R

c.1612G>C

1 paper

NM_019014.6

p.P3S

c.7C>T

1 paper

NM_019014.6

p.W7C

c.21G>C

1 paper

NM_019014.6

p.W7C

c.21G>T

1 paper

NM_019014.6

p.G13E

c.38G>A