Varaico: Literature-Extracted Genetic Variants

Gene:AZU1
Variant:p.L86P

AZU1

74 papers

RefSeq Summary

Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically process...

Pfam Domains

Trypsinaa 27–239UCSCTrypsin

Gene Aliases

HGNC Name

azurocidin 1

HGNC Alias Symbols

CAP37; AZAMP; NAZC; HUMAZUR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001700.5
p.L86P
c.257T>C
Surrounding Variants
1 paper
NM_001700.5
p.T96M
c.287C>T
1 paper
NM_001700.5
p.F97V
c.289T>G
2 papers
NM_001700.5
p.P74P
c.222C>T
1 paper
NM_001700.5
p.S100G
c.298A>G
1 paper
NM_001700.5
p.S101T
c.302G>C
1 paper
NM_001700.5
p.N105insFs
c.315dupT
1 paper
NM_001700.5
p.N105S
c.314A>G
1 paper
NM_001700.5
p.D108E
c.324C>A
1 paper
NM_001700.5
p.D108E
c.324C>G
1 paper
NM_001700.5
p.N114S
c.341A>G
1 paper
NM_001700.5
p.R123C
c.367C>T
1 paper
NM_001700.5
p.L138L
c.414G>A
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