Varaico: Literature-Extracted Genetic Variants

Gene:POLR1B
Variant:p.M839V

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_2aa 186–375UCSCRNA polymerase Rpb2, domain 2
RNA_pol_Rpb2_2aa 186–375UCSCRNA polymerase Rpb2, domain 2
RNA_pol_Rpb2_3aa 455–520UCSCRNA polymerase Rpb2, domain 3
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.M839V
c.2515A>G
Surrounding Variants
1 paper
NM_019014.6
p.S791G
c.2371A>G
1 paper
NM_019014.6
p.M753V
c.2257A>G
1 paper
NM_019014.6
p.V873G
c.2618T>G
1 paper
NM_019014.6
p.R875Q
c.2624G>A
1 paper
NM_019014.6
p.N876N
c.2628C>T
1 paper
NM_019014.6
p.T878A
c.2632A>G
1 paper
NM_019014.6
p.R713L
c.2138G>T
1 paper
NM_019014.6
p.L893V
c.2677T>G
1 paper
NM_019014.6
p.S894G
c.2680A>G
1 paper
NM_019014.6
p.R895G
c.2683A>G
1 paper
NM_019014.6
p.P898S
c.2692C>T
1 paper
NM_019014.6
p.P898L
c.2693C>T
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