Varaico: Literature-Extracted Genetic Variants

Gene:POLR2B
Variant:p.D127H

POLR2B

123 papers

RefSeq Summary

This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This sub...

Pfam Domains

RNA_pol_Rpb2_1aa 38–442UCSCRNA polymerase beta subunit
RNA_pol_Rpb2_2aa 201–394UCSCRNA polymerase Rpb2, domain 2
RNA_pol_Rpb2_3aa 468–532UCSCRNA polymerase Rpb2, domain 3
RNA_pol_Rpb2_4aa 567–629UCSCRNA polymerase Rpb2, domain 4
RNA_pol_Rpb2_5aa 653–700UCSCRNA polymerase Rpb2, domain 5
RNA_pol_Rpb2_6aa 707–1080UCSCRNA polymerase Rpb2, domain 6

Gene Aliases

HGNC Name

RNA polymerase II subunit B

HGNC Alias Symbol

RPB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000938.3
p.D127H
c.379G>C
Surrounding Variants
2 papers
NM_000938.3
p.P123P
c.369G>C
3 papers
NM_000938.3
p.G136C
c.406G>T
1 paper
NM_000938.3
p.G150delFs
c.448_449delGG
1 paper
NM_000938.3
p.G150fs
c.448_449fs
1 paper
NM_000938.3
p.I154delFs
c.461_462delTT
1 paper
NM_000938.3
p.M155L
c.463A>C
1 paper
NM_000938.3
p.M155L
c.463A>T
1 paper
NM_000938.3
p.T159I
c.476C>T
1 paper
NM_000938.3
p.Y160D
c.478T>G
1 paper
NM_000938.3
p.L163L
c.489G>A
1 paper
NM_000938.3
p.D170Y
c.508G>T
1 paper
NM_000938.3
p.D170V
c.509A>T
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