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.C617Y

c.1850G>A

Surrounding Variants

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

1 paper

NM_019014.6

p.R684G

c.2050C>G

1 paper

NM_019014.6

p.K582_V583Splc

c.1746+55C>A

1 paper

NM_019014.6

p.P555S

c.1663C>T

1 paper

NM_019014.6

p.R713L

c.2138G>T

1 paper

NM_019014.6

p.M753V

c.2257A>G

1 paper

NM_019014.6

p.S791G

c.2371A>G

1 paper

NM_019014.6

p.M839V

c.2515A>G

1 paper

NM_019014.6

p.V873G

c.2618T>G

1 paper

NM_019014.6

p.R875Q

c.2624G>A