Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G221*

ELANE

513 papers

RefSeq Summary

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein...

Pfam Domains

Trypsinaa 30–242UCSCTrypsin

Gene Aliases

HGNC Name

elastase, neutrophil expressed

HGNC Previous Symbol

ELA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001972.4
p.G221*
c.661G>T
Surrounding Variants
1 paper
NM_001972.4
p.G221fs
c.661_662fs
1 paper
NM_001972.4
p.G221V
c.662G>T
14 papers
NM_001972.4
p.R220Q
c.659G>A
1 paper
NM_001972.4
p.R220fs
c.658_659fs
2 papers
NM_001972.4
p.G221delFs
c.662delG
2 papers
NM_001972.4
p.R220fs
c.658_659fs
1 paper
NM_001972.4
p.G222_C223insFs
c.666_667ins5
1 paper
NM_001972.4
p.C223delFs
c.667delT
5 papers
NM_001972.4
p.R220delFs
c.658delC
5 papers
NM_001972.4
p.V219I
c.655G>A
1 paper
NM_001972.4
p.V219L
c.655G>C
1 paper
NM_001972.4
p.C223fs
c.667_668fs
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