Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC5
Variant:p.R29delFs

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.R29delFs
c.87delC
Surrounding Variants
2 papers
NM_020158.4
p.H30fs
c.88_89fs
1 paper
NM_020158.4
p.H30delins
c.88_89delinsAC
1 paper
NM_020158.4
p.F31S
c.92T>C
1 paper
NM_020158.4
p.E14E
c.42A>G
1 paper
NM_020158.4
p.E14K
c.40G>A
1 paper
NM_020158.4
p.G50Splc
c.148+1G>T
3 papers
NM_020158.4
p.T5M
c.14C>T
1 paper
NM_020158.4
p.E4E
c.12G>A
1 paper
NM_020158.4
p.L55L
c.163C>T
1 paper
NM_020158.4
p.V78M
c.232G>A
1 paper
NM_020158.4
p.E77_V78del1
c.230_232delCTT
1 paper
NM_020158.4
p.I84T
c.251T>C
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