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.R1064T

c.3191G>C

Surrounding Variants

1 paper

NM_000938.3

p.G1077C

c.3229G>T

1 paper

NM_000938.3

p.S1079Y

c.3236C>A

2 papers

NM_000938.3

p.R1080H

c.3239G>A

2 papers

NM_000938.3

p.Y1047*

c.3141T>A

2 papers

NM_000938.3

p.Y1047*

c.3141T>G

1 paper

NM_000938.3

p.G1044fs

c.3130_3131fs

1 paper

NM_000938.3

p.R1035Q

c.3104G>A

1 paper

NM_000938.3

p.K1010N

c.3030G>C

1 paper

NM_000938.3

p.K1010N

c.3030G>T

1 paper

NM_000938.3

p.C984Y

c.2951G>A

1 paper

NM_000938.3

p.I966S

c.2897T>G

1 paper

NM_000938.3

p.G960D

c.2879G>A