Varaico: Literature-Extracted Genetic Variants

Gene:PRTN3
Variant:p.Q123_L124Splc

PRTN3

358 papers

Pfam Domains

Trypsinaa 28–243UCSCTrypsin

Gene Aliases

HGNC Name

proteinase 3

HGNC Alias Symbols

PR-3; ACPA; C-ANCA; AGP7; MBT; P29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002777.4
p.Q123_L124Splc
c.369+2T>C
Surrounding Variants
3 papers
NM_002777.4
p.Q123_L124Splc
c.369+1G>A
1 paper
NM_002777.4
p.Q123E
c.367C>G
1 paper
NM_002777.4
p.Q123*
c.367C>T
1 paper
NM_002777.4
p.I122I
c.366C>A
1 paper
NM_002777.4
p.L121P
c.362T>C
1 paper
NM_002777.4
p.L121F
c.361C>T
3 papers
NM_002777.4
p.V119I
c.355G>A
1 paper
NM_002777.4
p.D118N
c.352G>A
1 paper
NM_002777.4
p.N117T
c.350A>C
1 paper
NM_002777.4
p.N117S
c.350A>G
1 paper
NM_002777.4
p.L116insFs
c.347_348insA
1 paper
NM_002777.4
p.N114S
c.341A>G
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