Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC4
Variant:p.L173L

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.L173L
c.519C>T
Surrounding Variants
1 paper
NM_019037.3
p.A169A
c.507C>T
1 paper
NM_019037.3
p.A169fs
c.505_506fs
1 paper
NM_019037.3
p.A169delFs
c.506delC
1 paper
NM_019037.3
p.S161L
c.482C>T
4 papers
NM_019037.3
p.L187P
c.560T>C
1 paper
NM_019037.3
p.A159V
c.476C>T
1 paper
NM_019037.3
p.P152L
c.455C>T
1 paper
NM_019037.3
p.A197V
c.590C>T
1 paper
NM_019037.3
p.L198M
c.592C>A
1 paper
NM_019037.3
p.L199L
c.597T>A
1 paper
NM_019037.3
p.L199L
c.597T>G
1 paper
NM_019037.3
p.R204W
c.610C>T
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