Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.G604R

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.G604R
c.1810G>C
Surrounding Variants
6 papers
NM_004826.4
p.G604R
c.1810G>A
1 paper
NM_004826.4
p.G605C
c.1813G>T
14 papers
NM_004826.4
p.G607S
c.1819G>A
9 papers
NM_004826.4
p.Q599Splc
c.1797-1G>A
1 paper
NM_004826.4
p.T615P
c.1843A>C
1 paper
NM_004826.4
p.D620N
c.1858G>A
1 paper
NM_004826.4
p.G622R
c.1864G>C
1 paper
NM_004826.4
p.G622R
c.1864G>C
1 paper
NM_004826.4
p.G622R
c.1864G>A
1 paper
NM_004826.4
p.G623D
c.1868G>A
1 paper
NM_004826.4
p.R645*
c.1933C>T
1 paper
NM_004826.4
p.K646R
c.1937A>G
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