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.G230G

c.690C>T

Surrounding Variants

1 paper

NM_181503.3

p.V225V

c.675A>T

2 papers

NM_181503.3

p.P210S

c.628C>T

1 paper

NM_181503.3

p.G240A

c.719G>C

1 paper

NM_181503.3

p.Q249*

c.745C>T

1 paper

NM_181503.3

p.R254*

c.760C>T

1 paper

NM_181503.3

p.R254Q

c.761G>A

1 paper

NM_181503.3

p.V262V

c.786T>A

1 paper

NM_181503.3

p.M266fs

c.796_797fs

1 paper

NM_181503.3

p.M266delFs

c.798delG

23 papers

NM_181503.3

p.S272T

c.815G>C

1 paper

NM_181503.3

p.D202V

c.605A>T

1 paper

NM_181503.3

p.L176S

c.527T>C