Varaico: Literature-Extracted Genetic Variants

Gene:PSME4
Variant:p.H722D

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.H722D
c.2164C>G
Surrounding Variants
1 paper
NM_014614.3
p.T715_L716del2
c.2143_2147del6
1 paper
NM_014614.3
p.Y714N
c.2140T>A
1 paper
NM_014614.3
p.L702F
c.2104C>T
1 paper
NM_014614.3
p.L693F
c.2077C>T
1 paper
NM_014614.3
p.L693I
c.2077C>A
1 paper
NM_014614.3
p.L692I
c.2074C>A
1 paper
NM_014614.3
p.K754T
c.2261A>C
2 papers
NM_014614.3
p.G766E
c.2297G>A
1 paper
NM_014614.3
p.Q789*
c.2365C>T
2 papers
NM_014614.3
p.E791K
c.2371G>A
2 papers
NM_014614.3
p.H797D
c.2389C>G
2 papers
NM_014614.3
p.D800A
c.2399A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."