Varaico: Literature-Extracted Genetic Variants

EXOSC8

68 papers

RefSeq Summary

This gene encodes a 3'-5' exoribonuclease that specifically interacts with mRNAs containing AU-rich elements. The encoded protein is part of the exosome complex that is important for the degradation o...

Pfam Domains

RNase_PHaa 31–166UCSC3' exoribonuclease family, domain 1

RNase_PH_Caa 191–258UCSC3' exoribonuclease family, domain 2

Gene Aliases

HGNC Name

exosome component 8

HGNC Alias Symbols

OIP2; RRP43; bA421P11.3; Rrp43p; EAP2; p9; CIP3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

23 papers

NM_181503.3

p.S272T

c.815G>C

9 papers

NM_181503.3

p.A2V

c.5C>T

5 papers

NM_181503.3

p.P87H

c.260C>A

5 papers

NM_181503.3

p.S91L

c.272C>T

2 papers

NM_181503.3

p.V80I

c.238G>A

2 papers

NM_181503.3

p.Q120*

c.358C>T

2 papers

NM_181503.3

p.C125R

c.373T>C

2 papers

NM_181503.3

p.L160delFs

c.480delA

2 papers

NM_181503.3

p.P210S

c.628C>T

1 paper

NM_181503.3

p.M1T

c.2T>C

1 paper

NM_181503.3

p.M1I

c.3G>A

1 paper

NM_181503.3

p.M1I

c.3G>C