Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.E1191K

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.E1191K
c.3571G>A
Surrounding Variants
1 paper
NM_014614.3
p.E1191*
c.3571G>T
1 paper
NM_014614.3
p.F1189insFs
c.3566dupT
1 paper
NM_014614.3
p.R1201Q
c.3602G>A
1 paper
NM_014614.3
p.V1180V
c.3540G>A
1 paper
NM_014614.3
p.R1179*
c.3535C>T
1 paper
NM_014614.3
p.N1158I
c.3473A>T
1 paper
NM_014614.3
p.N1158Y
c.3472A>T
1 paper
NM_014614.3
p.R1157I
c.3470G>T
1 paper
NM_014614.3
p.R1141Splc
c.3423-4A>G
2 papers
NM_014614.3
p.E1134K
c.3400G>A
1 paper
NM_014614.3
p.E1127D
c.3381A>T
1 paper
NM_014614.3
p.E1127D
c.3381A>C
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