Varaico: Literature-Extracted Genetic Variants

Gene:PSMG1
Variant:p.R45Splc

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.R45Splc
c.135-2A>G
Surrounding Variants
1 paper
NM_003720.4
p.R48Q
c.143G>A
1 paper
NM_003720.4
p.T54_K55insFs
c.162_163insA
1 paper
NM_003720.4
p.T56delFs
c.166delT
1 paper
NM_003720.4
p.S69F
c.206C>T
1 paper
NM_003720.4
p.F71L
c.213T>A
1 paper
NM_003720.4
p.I73_A74insFs
c.219_220insT
1 paper
NM_003720.4
p.N77_A79del3
c.229_236del9
1 paper
NM_003720.4
p.L39L
c.117G>A
1 paper
NM_003720.4
p.E33Fs
c.97_98delinsCFs
1 paper
NM_003720.4
p.T31A
c.91A>G
1 paper
NM_003720.4
p.E26del1
c.76_77delCTC
2 papers
NM_003720.4
p.E26G
c.77A>G
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