Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC9
Variant:p.M1I

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.M1I
c.3G>A
Surrounding Variants
1 paper
NM_005033.3
p.M1I
c.3G>C
1 paper
NM_005033.3
p.M1I
c.3G>T
19 papers
NM_005033.3
p.L14P
c.41T>C
1 paper
NM_005033.3
p.D31E
c.93T>A
2 papers
NM_005033.3
p.S38S
c.114A>C
1 paper
NM_005033.3
p.T41insFs
c.121_122insT
3 papers
NM_005033.3
p.G51R
c.151G>A
3 papers
NM_005033.3
p.G51R
c.151G>C
1 paper
NM_005033.3
p.E62K
c.184G>A
1 paper
NM_005033.3
p.P66delFs
c.196_197delCC
1 paper
NM_005033.3
p.P66_R70delFs
c.198_208del11
1 paper
NM_005033.3
p.K67fs
c.199_200fs
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