Varaico: Literature-Extracted Genetic Variants

Gene:CELA1
Variant:p.V3_G6del0

CELA1

105 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 the structurally similar proteins elastase 1, 2, 2A, 2B,...

Pfam Domains

Trypsinaa 19–251UCSCTrypsin

Gene Aliases

HGNC Name

chymotrypsin like elastase 1

HGNC Previous Symbol

ELA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001971.6
p.V3_G6del0
c.8_16del9
Surrounding Variants
5 papers
NM_001971.6
p.G6_H7insC
c.16_20ins3
7 papers
NM_001971.6
p.L4_Y5delFs
c.12_15del4
1 paper
NM_001971.6
p.L4_Y5del2
c.10_14del6
1 paper
NM_001971.6
p.Y5fs
c.13_14fs
1 paper
NM_001971.6
p.V3_G6delFs
c.7_16del10
5 papers
NM_001971.6
p.Y5S
c.14A>C
1 paper
NM_001971.6
p.Y5Fs
c.14delinsCCFs
1 paper
NM_001971.6
p.Y5delins
c.13_14delinsCC
1 paper
NM_001971.6
p.Y5D
c.13T>G
4 papers
NM_001971.6
p.Y5H
c.13T>C
2 papers
NM_001971.6
p.Y5fs
c.13_14fs
3 papers
NM_001971.6
p.L4fs
c.10_11fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."