Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.S425T

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
2 papers
NM_005033.3
p.S425T
c.1274G>C
Surrounding Variants
1 paper
NM_005033.3
p.R431K
c.1292G>A
1 paper
NM_005033.3
p.N407K
c.1221T>A
1 paper
NM_005033.3
p.N407K
c.1221T>G
1 paper
NM_005033.3
p.D386Splc
c.1157-1G>T
1 paper
NM_005033.3
p.I366V
c.1096A>G
1 paper
NM_005033.3
p.G362G
c.1086T>C
1 paper
NM_005033.3
p.E356Q
c.1066G>C
1 paper
NM_005033.3
p.L350fs
c.1048_1049fs
1 paper
NM_005033.3
p.L350insFs
c.1048_1049insT
1 paper
NM_005033.3
p.T333P
c.997A>C
1 paper
NM_005033.3
p.T294I
c.881C>T
1 paper
NM_005033.3
p.K244_D245del2
c.730_734del6
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