Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.H137_L138delFs

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
1 paper
NM_005033.3
p.H137_L138delFs
c.411_412delTT
Surrounding Variants
1 paper
NM_005033.3
p.I146M
c.438T>G
6 papers
NM_005033.3
p.R161*
c.481C>T
2 papers
NM_005033.3
p.R162insFs
c.484dupA
2 papers
NM_005033.3
p.R162fs
c.484_485fs
1 paper
NM_005033.3
p.G169E
c.506G>A
1 paper
NM_005033.3
p.Q84fs
c.250_251fs
1 paper
NM_005033.3
p.L82delFs
c.244_245delCT
1 paper
NM_005033.3
p.E81K
c.241G>A
3 papers
NM_005033.3
p.L80R
c.239T>G
1 paper
NM_005033.3
p.N79fs
c.235_236fs
1 paper
NM_005033.3
p.F78fs
c.232_233fs
1 paper
NM_005033.3
p.F78fs
c.232_233fs
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