Varaico: Literature-Extracted Genetic Variants

Gene:AZU1
Variant:p.V232fs

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
2 papers
NM_001700.5
p.V232fs
c.694_695fs
Surrounding Variants
1 paper
NM_001700.5
p.V232delFs
c.695delT
1 paper
NM_001700.5
p.R236*
c.706C>T
1 paper
NM_001700.5
p.P226L
c.677C>T
1 paper
NM_001700.5
p.R224L
c.671G>T
1 paper
NM_001700.5
p.C222Y
c.665G>A
1 paper
NM_001700.5
p.G213R
c.637G>C
1 paper
NM_001700.5
p.V206G
c.617T>G
1 paper
NM_001700.5
p.E177*
c.529G>T
2 papers
NM_001700.5
p.P176R
c.527C>G
1 paper
NM_001700.5
p.V172M
c.514G>A
2 papers
NM_001700.5
p.F169F
c.507T>C
1 paper
NM_001700.5
p.R165H
c.494G>A
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