Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC5
Variant:p.R96fs

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.R96fs
c.286_287fs
Surrounding Variants
1 paper
NM_020158.4
p.R96Q
c.287G>A
1 paper
NM_020158.4
p.T101K
c.302C>A
1 paper
NM_020158.4
p.G108fs
c.322_323fs
1 paper
NM_020158.4
p.T109T
c.327G>A
1 paper
NM_020158.4
p.H111Y
c.331C>T
1 paper
NM_020158.4
p.R113C
c.337C>T
7 papers
NM_020158.4
p.T114I
c.341C>T
1 paper
NM_020158.4
p.T114_S115del1
c.341_343delAGG
1 paper
NM_020158.4
p.S128_L129Splc
c.384+1G>A
1 paper
NM_020158.4
p.I84T
c.251T>C
1 paper
NM_020158.4
p.E77_V78del1
c.230_232delCTT
1 paper
NM_020158.4
p.V78M
c.232G>A
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