Varaico: Literature-Extracted Genetic Variants

Gene:PSMG1
Variant:p.S84L

PSMG1

85 papers

Pfam Domains

PAC1aa 2–288UCSCProteasome assembly chaperone 4

Gene Aliases

HGNC Name

proteasome assembly chaperone 1

HGNC Previous Symbol

DSCR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003720.4
p.S84L
c.251C>T
Surrounding Variants
1 paper
NM_003720.4
p.M88T
c.263T>C
1 paper
NM_003720.4
p.G91E
c.272G>A
1 paper
NM_003720.4
p.V92I
c.274G>A
1 paper
NM_003720.4
p.V96I
c.286G>A
1 paper
NM_003720.4
p.T108I
c.323C>T
1 paper
NM_003720.4
p.T112A
c.334A>G
1 paper
NM_003720.4
p.K127E
c.379A>G
1 paper
NM_003720.4
p.E151G
c.452A>G
1 paper
NM_003720.4
p.K152_V153Splc
c.456+2T>G
1 paper
NM_003720.4
p.N77_A79del3
c.229_236del9
1 paper
NM_003720.4
p.I73_A74insFs
c.219_220insT
1 paper
NM_003720.4
p.F71L
c.213T>A
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