Varaico: Literature-Extracted Genetic Variants

Gene:PSMA7
Variant:p.D79V

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.D79V
c.236A>T
Surrounding Variants
1 paper
NM_002792.4
p.G75D
c.224G>A
1 paper
NM_002792.4
p.V102I
c.304G>A
1 paper
NM_002792.4
p.V102G
c.305T>G
1 paper
NM_002792.4
p.Y110*
c.330C>A
2 papers
NM_002792.4
p.A112D
c.335C>A
1 paper
NM_002792.4
p.Q116_R117Splc
c.348+2T>C
1 paper
NM_002792.4
p.Q116_R117Splc
c.349-2A>G
1 paper
NM_002792.4
p.R117C
c.349C>T
1 paper
NM_002792.4
p.R117L
c.350G>T
1 paper
NM_002792.4
p.R117P
c.350G>C
2 papers
NM_002792.4
p.R117H
c.350G>A
1 paper
NM_002792.4
p.R124C
c.370C>T
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