Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.I239delFs

PSME4

122 papers

Pfam Domains

HEAT_PSME4_midaa 330–828UCSCProteasome activator complex subunit 4, mid HEAT repeats region
HEAT_PSME4aa 1184–1470UCSCProteasome activator complex subunit 4-like, HEAT repeat-like
PSME4_Caa 1756–1843UCSCProteasome activator complex subunit 4-like, C-terminal

Gene Aliases

HGNC Name

proteasome activator subunit 4

HGNC Alias Symbols

PA200; KIAA0077

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014614.3
p.I239delFs
c.715_716delAT
Surrounding Variants
1 paper
NM_014614.3
p.G253_Q254Splc
c.760-51T>A
1 paper
NM_014614.3
p.P224A
c.670C>G
1 paper
NM_014614.3
p.P223L
c.668C>T
1 paper
NM_014614.3
p.V205G
c.614T>G
1 paper
NM_014614.3
p.V276A
c.827T>C
1 paper
NM_014614.3
p.T189T
c.567C>T
1 paper
NM_014614.3
p.A188V
c.563C>T
1 paper
NM_014614.3
p.L287F
c.861G>T
1 paper
NM_014614.3
p.L287F
c.861G>C
2 papers
NM_014614.3
p.P322S
c.964C>T
1 paper
NM_014614.3
p.G347R
c.1039G>A
1 paper
NM_014614.3
p.K355R
c.1064A>G
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