Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.T1272insFs

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.T1272insFs
c.3814dupA
Surrounding Variants
1 paper
NM_014614.3
p.W1274G
c.3820T>G
1 paper
NM_014614.3
p.E1270K
c.3808G>A
1 paper
NM_014614.3
p.K1261delFs
c.3783delT
1 paper
NM_014614.3
p.T1259_K1260insFs
c.3777_3778insA
1 paper
NM_014614.3
p.G1333_K1336del4
c.3997_4007del12
1 paper
NM_014614.3
p.P1339S
c.4015C>T
1 paper
NM_014614.3
p.P1339L
c.4016C>T
1 paper
NM_014614.3
p.R1341H
c.4022G>A
1 paper
NM_014614.3
p.R1201Q
c.3602G>A
1 paper
NM_014614.3
p.E1191*
c.3571G>T
1 paper
NM_014614.3
p.E1191K
c.3571G>A
1 paper
NM_014614.3
p.F1189insFs
c.3566dupT
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