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.Y465*

c.1395C>G

Surrounding Variants

1 paper

NM_019014.6

p.T483T

c.1449C>A

1 paper

NM_019014.6

p.W494S

c.1481G>C

1 paper

NM_019014.6

p.G495D

c.1484G>A

1 paper

NM_019014.6

p.E519K

c.1555G>A

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.F430L

c.1290T>A

1 paper

NM_019014.6

p.F430L

c.1290T>G

1 paper

NM_019014.6

p.F430L

c.1288T>C

1 paper

NM_019014.6

p.P555S

c.1663C>T

1 paper

NM_019014.6

p.K582_V583Splc

c.1746+55C>A

1 paper

NM_019014.6

p.E321K

c.961G>A