Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.L80R

EXOSC9

55 papers

RefSeq Summary

This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the ...

Pfam Domains

RNase_PHaa 31–163UCSC3' exoribonuclease family, domain 1
RNase_PH_Caa 189–256UCSC3' exoribonuclease family, domain 2

Gene Aliases

HGNC Name

exosome component 9

HGNC Previous Symbol

PMSCL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005033.3
p.L80R
c.239T>G
Surrounding Variants
1 paper
NM_005033.3
p.E81K
c.241G>A
1 paper
NM_005033.3
p.N79fs
c.235_236fs
1 paper
NM_005033.3
p.L82delFs
c.244_245delCT
1 paper
NM_005033.3
p.F78fs
c.232_233fs
1 paper
NM_005033.3
p.F78fs
c.232_233fs
1 paper
NM_005033.3
p.Q84fs
c.250_251fs
3 papers
NM_005033.3
p.L76fs
c.226_227fs
1 paper
NM_005033.3
p.F78insFs
c.234dupT
1 paper
NM_005033.3
p.K67N
c.201A>C
1 paper
NM_005033.3
p.K67N
c.201A>T
1 paper
NM_005033.3
p.K67fs
c.199_200fs
1 paper
NM_005033.3
p.P66_R70delFs
c.198_208del11
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."