Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.Y11*

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
2 papers
NM_004826.4
p.Y11*
c.33C>A
Surrounding Variants
3 papers
NM_004826.4
p.Y11*
c.33C>G
1 paper
NM_004826.4
p.A9T
c.25G>A
1 paper
NM_004826.4
p.Q15H
c.45A>T
1 paper
NM_004826.4
p.L7L
c.19C>T
1 paper
NM_004826.4
p.P4L
c.11C>T
1 paper
NM_004826.4
p.E2*
c.4G>T
6 papers
NM_004826.4
p.C23*
c.69C>A
3 papers
NM_004826.4
p.A28V
c.83C>T
1 paper
NM_004826.4
p.G36D
c.107G>A
5 papers
NM_004826.4
p.F37fs
c.109_110fs
5 papers
NM_004826.4
p.F37fs
c.109_110fs
2 papers
NM_004826.4
p.S44R
c.130A>C
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