Varaico: Literature-Extracted Genetic Variants

Gene:PSMA7
Variant:p.K48delFs

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
Selected Variant
1 paper
NM_002792.4
p.K48delFs
c.144delC
Surrounding Variants
1 paper
NM_002792.4
p.K48fs
c.142_143fs
1 paper
NM_002792.4
p.E56K
c.166G>A
1 paper
NM_002792.4
p.I40N
c.119T>A
1 paper
NM_002792.4
p.T58I
c.173C>T
1 paper
NM_002792.4
p.R60Q
c.179G>A
1 paper
NM_002792.4
p.V33Fs
c.97_98delinsCFs
1 paper
NM_002792.4
p.D67D
c.201C>T
1 paper
NM_002792.4
p.C70C
c.210C>T
1 paper
NM_002792.4
p.G75Splc
c.223+2T>G
1 paper
NM_002792.4
p.G75D
c.224G>A
1 paper
NM_002792.4
p.D79V
c.236A>T
1 paper
NM_002792.4
p.V102I
c.304G>A
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