Varaico: Literature-Extracted Genetic Variants

POLR2E

33 papers

RefSeq Summary

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA poly...

Pfam Domains

RNA_pol_Rpb5_Naa 4–94UCSCRNA polymerase Rpb5, N-terminal domain

RNA_pol_Rpb5_Caa 137–209UCSCRNA polymerase Rpb5, C-terminal domain

Gene Aliases

HGNC Name

RNA polymerase II, I and III subunit E

HGNC Alias Symbols

RPB5; RPABC1; XAP4; hRPB25; hsRPB5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002695.5

p.T111A

c.331A>G

Surrounding Variants

1 paper

NM_002695.5

p.P112A

c.334C>G

1 paper

NM_002695.5

p.A102V

c.305C>T

1 paper

NM_002695.5

p.A102T

c.304G>A

1 paper

NM_002695.5

p.R93C

c.277C>T

1 paper

NM_002695.5

p.E78Splc

c.233-2A>G

1 paper

NM_002695.5

p.A122D

c.365C>A

1 paper

NM_002695.5

p.K124*

c.370A>T

1 paper

NM_002695.5

p.L131delFs

c.392_393delCA

1 paper

NM_002695.5

p.E143_L144Splc

c.429+104T>C

1 paper

NM_002695.5

p.V150F

c.448G>T

1 paper

NM_002695.5

p.K153R

c.458A>G

1 paper

NM_002695.5

p.L160P

c.479T>C