Varaico: Literature-Extracted Genetic Variants

Gene:PSMA7

PSMA7

135 papers

RefSeq Summary

The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identic...

Pfam Domains

Proteasome_A_Naa 3–25UCSCProteasome subunit A N-terminal signature
Proteasomeaa 26–211UCSCProteasome subunit

Gene Aliases

HGNC Name

proteasome 20S subunit alpha 7

HGNC Alias Symbols

XAPC7; HSPC; RC6-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
2 papers
NM_002792.4
p.K27M
c.80A>T
2 papers
NM_002792.4
p.A112D
c.335C>A
2 papers
NM_002792.4
p.R117H
c.350G>A
1 paper
NM_002792.4
p.M1L
c.1A>T
1 paper
NM_002792.4
p.M1L
c.1A>C
1 paper
NM_002792.4
p.M1T
c.2T>C
1 paper
NM_002792.4
p.M1I
c.3G>A
1 paper
NM_002792.4
p.Q23_E24insFs
c.69_70ins4
1 paper
NM_002792.4
p.V33Fs
c.97_98delinsCFs
1 paper
NM_002792.4
p.I40N
c.119T>A
1 paper
NM_002792.4
p.K48fs
c.142_143fs
1 paper
NM_002792.4
p.K48delFs
c.144delC
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."