Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.K244_D245del2

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.K244_D245del2
c.730_734del6
Surrounding Variants
1 paper
NM_005033.3
p.S237R
c.711T>A
1 paper
NM_005033.3
p.N226I
c.677A>T
1 paper
NM_005033.3
p.L221insFs
c.662_663insA
2 papers
NM_005033.3
p.R215C
c.643C>T
1 paper
NM_005033.3
p.R212Q
c.635G>A
1 paper
NM_005033.3
p.R212*
c.634C>T
1 paper
NM_005033.3
p.F196_A197del2
c.586_590del6
1 paper
NM_005033.3
p.V194L
c.580G>C
1 paper
NM_005033.3
p.C193F
c.578G>T
1 paper
NM_005033.3
p.I192M
c.576T>G
1 paper
NM_005033.3
p.T294I
c.881C>T
1 paper
NM_005033.3
p.T333P
c.997A>C
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