Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC4
Variant:p.R94P

EXOSC4

81 papers

Pfam Domains

RNase_PHaa 21–152UCSC3' exoribonuclease family, domain 1
RNase_PH_Caa 155–220UCSC3' exoribonuclease family, domain 2

Gene Aliases

HGNC Name

exosome component 4

HGNC Alias Symbols

hRrp41p; FLJ20591; Rrp41p; RRP41; RRP41A; Ski6p; SKI6; p12A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019037.3
p.R94P
c.281G>C
Surrounding Variants
1 paper
NM_019037.3
p.K95E
c.283A>G
2 papers
NM_019037.3
p.G92G
c.276G>T
1 paper
NM_019037.3
p.R86C
c.256C>T
1 paper
NM_019037.3
p.R104C
c.310C>T
1 paper
NM_019037.3
p.Y76N
c.226T>A
1 paper
NM_019037.3
p.P117P
c.351A>G
1 paper
NM_019037.3
p.D68Y
c.202G>T
1 paper
NM_019037.3
p.R64P
c.191G>C
1 paper
NM_019037.3
p.G60G
c.180C>G
1 paper
NM_019037.3
p.E57_I58Splc
c.172-7C>G
1 paper
NM_019037.3
p.Q126_V127Splc
c.379-2A>G
1 paper
NM_019037.3
p.A137T
c.409G>A
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