Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.S550*

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
12 papers
NM_004826.4
p.S550*
c.1649C>G
Surrounding Variants
4 papers
NM_004826.4
p.S550*
c.1649C>A
5 papers
NM_004826.4
p.R544C
c.1630C>T
10 papers
NM_004826.4
p.T562Splc
c.1685+1G>T
7 papers
NM_004826.4
p.T562Splc
c.1685+1G>A
1 paper
NM_004826.4
p.E527_F528Splc
c.1581+1G>A
11 papers
NM_004826.4
p.G511S
c.1531G>A
1 paper
NM_004826.4
p.P566L
c.1697C>T
3 papers
NM_004826.4
p.P567R
c.1700C>G
6 papers
NM_004826.4
p.K502_L503Splc
c.1507-9G>A
2 papers
NM_004826.4
p.N571S
c.1712A>G
1 paper
NM_004826.4
p.M581_V582insFs
c.1743_1744insT
1 paper
NM_004826.4
p.V582Splc
c.1745-1G>C
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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."