Varaico: Literature-Extracted Genetic Variants

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.E333D

c.999G>C

Surrounding Variants

1 paper

NM_000938.3

p.E333D

c.999G>T

1 paper

NM_000938.3

p.V342delFs

c.1025delT

1 paper

NM_000938.3

p.Q314H

c.942G>C

1 paper

NM_000938.3

p.Q314H

c.942G>T

1 paper

NM_000938.3

p.M300_V301Splc

c.901-5G>A

2 papers

NM_000938.3

p.G366Splc

c.1098-4A>T

1 paper

NM_000938.3

p.R371W

c.1111A>T

1 paper

NM_000938.3

p.D383A

c.1148A>C

1 paper

NM_000938.3

p.D384Y

c.1150G>T

1 paper

NM_000938.3

p.L400P

c.1199T>C

1 paper

NM_000938.3

p.R416W

c.1246C>T

1 paper

NM_000938.3

p.R425*

c.1273C>T