Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.R553Splc

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.R553Splc
c.1658+14C>A
Surrounding Variants
1 paper
NM_014614.3
p.R553Splc
c.1658+12A>G
1 paper
NM_014614.3
p.L548S
c.1643T>C
1 paper
NM_014614.3
p.L557V
c.1669C>G
1 paper
NM_014614.3
p.M575I
c.1725G>T
1 paper
NM_014614.3
p.M575I
c.1725G>C
1 paper
NM_014614.3
p.M575I
c.1725G>A
1 paper
NM_014614.3
p.L584I
c.1750T>A
2 papers
NM_014614.3
p.L594F
c.1780C>T
1 paper
NM_014614.3
p.S598F
c.1793C>T
1 paper
NM_014614.3
p.M603_V604Splc
c.1809+113A>G
2 papers
NM_014614.3
p.E525K
c.1573G>A
1 paper
NM_014614.3
p.M501_I502Splc
c.1504-4A>G
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