Varaico: Literature-Extracted Genetic Variants

Gene:CELA1

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
1–12 of 96 variants
9 papers
NM_001971.6
p.R44W
c.130C>T
8 papers
NM_001971.6
p.V3fs
c.7_8fs
7 papers
NM_001971.6
p.L4_Y5delFs
c.12_15del4
7 papers
NM_001971.6
p.L210fs
c.628_629fs
6 papers
NM_001971.6
p.L2_V3insFs
c.6_7insC
5 papers
NM_001971.6
p.Y5S
c.14A>C
5 papers
NM_001971.6
p.G6_H7insC
c.16_20ins3
5 papers
NM_001971.6
p.L12_T15del4
c.34_44del12
5 papers
NM_001971.6
p.A140delFs
c.419delG
5 papers
NM_001971.6
p.L210insFs
c.628_629insC
4 papers
NM_001971.6
p.V3insFs
c.7_8insCT
4 papers
NM_001971.6
p.V3fs
c.7_8fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."