Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R418S

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
13 papers
NM_004826.4
p.R418S
c.1252C>A
Surrounding Variants
13 papers
NM_004826.4
p.R418C
c.1252C>T
1 paper
NM_004826.4
p.F417F
c.1251C>T
1 paper
NM_004826.4
p.P415L
c.1244C>T
1 paper
NM_004826.4
p.S414P
c.1240T>C
2 papers
NM_004826.4
p.E423Q
c.1267G>C
1 paper
NM_004826.4
p.H398_S410del13
c.1192_1229del39
1 paper
NM_004826.4
p.A425V
c.1274C>T
1 paper
NM_004826.4
p.S410G
c.1228A>G
11 papers
NM_004826.4
p.V407_V408ins0
c.1221_1223dupGGT
1 paper
NM_004826.4
p.V408ins1
c.1223_1224insGGT
1 paper
NM_004826.4
p.R404H
c.1211G>A
19 papers
NM_004826.4
p.R404C
c.1210C>T
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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."