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

Selected Variant

5 papers

NM_181503.3

p.P87H

c.260C>A

Surrounding Variants

1 paper

NM_181503.3

p.S90*

c.269C>A

1 paper

NM_181503.3

p.S90*

c.269C>G

5 papers

NM_181503.3

p.S91L

c.272C>T

1 paper

NM_181503.3

p.P81S

c.241C>T

1 paper

NM_181503.3

p.V80fs

c.238_239fs

1 paper

NM_181503.3

p.S95C

c.284C>G

1 paper

NM_181503.3

p.Q107Q

c.321G>A

1 paper

NM_181503.3

p.N115_K130delFs

c.345_390del46

1 paper

NM_181503.3

p.S116fs

c.346_347fs

2 papers

NM_181503.3

p.Q120*

c.358C>T

2 papers

NM_181503.3

p.C125R

c.373T>C

1 paper

NM_181503.3

p.G129V

c.386G>T