Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R333*

ECEL1

142 papers

RefSeq Summary

This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide ...

Pfam Domains

Peptidase_M13_Naa 122–513UCSCPeptidase family M13
Peptidase_M13aa 571–774UCSCPeptidase family M13

Gene Aliases

HGNC Name

endothelin converting enzyme like 1

HGNC Alias Symbol

DINE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_004826.4
p.R333*
c.997C>T
Surrounding Variants
1 paper
NM_004826.4
p.R332W
c.994C>T
3 papers
NM_004826.4
p.H328Y
c.982C>T
1 paper
NM_004826.4
p.L344_G345insGGT
c.1030_1034ins9
3 papers
NM_004826.4
p.H353fs
c.1057_1058fs
9 papers
NM_004826.4
p.H353insFs
c.1057dupC
2 papers
NM_004826.4
p.H353_L354Splc
c.1059+1G>A
4 papers
NM_004826.4
p.N322_I323Splc
c.966+1G>T
9 papers
NM_004826.4
p.N322_I323Splc
c.966+1G>A
1 paper
NM_004826.4
p.E312K
c.934G>A
1 paper
NM_004826.4
p.K309fs
c.925_926fs
2 papers
NM_004826.4
p.K309delFs
c.926delT
1 paper
NM_004826.4
p.K309fs
c.925_926fs
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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."