Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC5
Variant:p.R178W

EXOSC5

38 papers

Pfam Domains

RNase_PHaa 27–147UCSC3' exoribonuclease family, domain 1
RNase_PH_Caa 150–216UCSC3' exoribonuclease family, domain 2

Gene Aliases

HGNC Name

exosome component 5

HGNC Alias Symbols

hRrp46p; Rrp46p; RRP46; RRP41B; MGC12901; p12B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020158.4
p.R178W
c.532C>T
Surrounding Variants
1 paper
NM_020158.4
p.R178Q
c.533G>A
1 paper
NM_020158.4
p.A179T
c.535G>A
1 paper
NM_020158.4
p.D203fs
c.607_608fs
5 papers
NM_020158.4
p.L206H
c.617T>A
1 paper
NM_020158.4
p.V220A
c.659T>C
1 paper
NM_020158.4
p.R222C
c.664C>T
2 papers
NM_020158.4
p.R225W
c.673C>T
1 paper
NM_020158.4
p.S227*
c.680C>A
1 paper
NM_020158.4
p.R230_Y232del3
c.688_695del9
1 paper
NM_020158.4
p.A158V
c.473C>T
5 papers
NM_020158.4
p.M148T
c.443T>C
1 paper
NM_020158.4
p.S128_L129Splc
c.384+1G>A
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