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

3 papers

NM_019014.6

p.R1003C

c.3007C>T

Surrounding Variants

3 papers

NM_019014.6

p.R1003S

c.3007C>A

1 paper

NM_019014.6

p.M1005V

c.3013A>G

1 paper

NM_019014.6

p.R1018*

c.3052C>T

1 paper

NM_019014.6

p.I1026V

c.3076A>G

1 paper

NM_019014.6

p.L1046I

c.3136T>A

1 paper

NM_019014.6

p.M933V

c.2797A>G

1 paper

NM_019014.6

p.P1084fs

c.3250_3251fs

1 paper

NM_019014.6

p.P898P

c.2694G>A

1 paper

NM_019014.6

p.P898L

c.2693C>T

1 paper

NM_019014.6

p.P898S

c.2692C>T

1 paper

NM_019014.6

p.R895G

c.2683A>G

1 paper

NM_019014.6

p.S894G

c.2680A>G