Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.N322_I323Splc

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
4 papers
NM_004826.4
p.N322_I323Splc
c.966+1G>T
Surrounding Variants
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
1 paper
NM_004826.4
p.Q308*
c.922C>T
1 paper
NM_004826.4
p.G302S
c.904G>A
11 papers
NM_004826.4
p.V292delFs
c.874delC
5 papers
NM_004826.4
p.V292fs
c.874_875fs
11 papers
NM_004826.4
p.Y290C
c.869A>G
3 papers
NM_004826.4
p.H328Y
c.982C>T
1 paper
NM_004826.4
p.R332W
c.994C>T
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