Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.Y239insFs

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
11 papers
NM_004826.4
p.Y239insFs
c.716dupA
Surrounding Variants
5 papers
NM_004826.4
p.Y239*
c.717C>G
5 papers
NM_004826.4
p.Y239*
c.717C>A
1 paper
NM_004826.4
p.A241A
c.723C>T
1 paper
NM_004826.4
p.A243V
c.728C>T
1 paper
NM_004826.4
p.Y233H
c.697T>C
5 papers
NM_004826.4
p.R225R
c.675A>T
1 paper
NM_004826.4
p.R225*
c.673C>T
2 papers
NM_004826.4
p.R262C
c.784C>T
2 papers
NM_004826.4
p.W211C
c.633G>T
3 papers
NM_004826.4
p.W211C
c.633G>C
1 paper
NM_004826.4
p.G209V
c.626G>T
3 papers
NM_004826.4
p.M201T
c.602T>C
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