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

1 paper

NM_181503.3

p.G40Splc

c.119-1G>A

Surrounding Variants

1 paper

NM_181503.3

p.A45T

c.133G>A

1 paper

NM_181503.3

p.A64_E65Splc

c.192+5G>C

1 paper

NM_181503.3

p.I39N

c.116T>A

1 paper

NM_181503.3

p.G30V

c.89G>T

1 paper

NM_181503.3

p.G26_R27del2

c.76_80del6

1 paper

NM_181503.3

p.E9fs

c.25_26fs

1 paper

NM_181503.3

p.E9delFs

c.26_27delAA

2 papers

NM_181503.3

p.V80I

c.238G>A

1 paper

NM_181503.3

p.V80F

c.238G>T

1 paper

NM_181503.3

p.G4E

c.11G>A

1 paper

NM_181503.3

p.A3T

c.7G>A

9 papers

NM_181503.3

p.A2V

c.5C>T