Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.E1396D

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.E1396D
c.4188A>C
Surrounding Variants
1 paper
NM_014614.3
p.E1396D
c.4188A>T
8 papers
NM_014614.3
p.S1371T
c.4111T>A
1 paper
NM_014614.3
p.L1364S
c.4091T>C
1 paper
NM_014614.3
p.F1349insFs
c.4046_4047insCC
1 paper
NM_014614.3
p.R1341H
c.4022G>A
1 paper
NM_014614.3
p.P1339L
c.4016C>T
1 paper
NM_014614.3
p.P1339S
c.4015C>T
1 paper
NM_014614.3
p.G1333_K1336del4
c.3997_4007del12
1 paper
NM_014614.3
p.W1402S
c.4205G>C
1 paper
NM_014614.3
p.L1409V
c.4225C>G
1 paper
NM_014614.3
p.C1427C
c.4281T>C
1 paper
NM_014614.3
p.W1274G
c.3820T>G
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