Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.L467M

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
2 papers
NM_014614.3
p.L467M
c.1399T>A
Surrounding Variants
1 paper
NM_014614.3
p.S466N
c.1397G>A
1 paper
NM_014614.3
p.P478H
c.1433C>A
1 paper
NM_014614.3
p.M481T
c.1442T>C
1 paper
NM_014614.3
p.P483S
c.1447C>T
1 paper
NM_014614.3
p.P483L
c.1448C>T
1 paper
NM_014614.3
p.L484L
c.1452G>A
1 paper
NM_014614.3
p.E445_T446delFs
c.1333_1336del4
1 paper
NM_014614.3
p.A488T
c.1462G>A
1 paper
NM_014614.3
p.E445fs
c.1333_1334fs
2 papers
NM_014614.3
p.P442H
c.1325C>A
1 paper
NM_014614.3
p.N495D
c.1483A>G
1 paper
NM_014614.3
p.M501_I502Splc
c.1504-4A>G
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