Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R724Q

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
1 paper
NM_004826.4
p.R724Q
c.2171G>A
Surrounding Variants
1 paper
NM_004826.4
p.I728delFs
c.2184delG
1 paper
NM_004826.4
p.V732V
c.2196G>T
1 paper
NM_004826.4
p.Q717_N718Splc
c.2152-15C>A
3 papers
NM_004826.4
p.R743M
c.2228G>T
3 papers
NM_004826.4
p.R743M
c.2228G>T
1 paper
NM_004826.4
p.R743Splc
c.2229-1G>A
1 paper
NM_004826.4
p.C760G
c.2278T>G
12 papers
NM_004826.4
p.C760R
c.2278T>C
1 paper
NM_004826.4
p.C760F
c.2279G>T
1 paper
NM_004826.4
p.Q717_N718Splc
c.2151+2T>C
2 papers
NM_004826.4
p.Q717_N718Splc
c.2151+2T>A
1 paper
NM_004826.4
p.D763G
c.2288A>G
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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."