Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.Q717_N718Splc

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.Q717_N718Splc
c.2151+2T>C
Surrounding Variants
2 papers
NM_004826.4
p.Q717_N718Splc
c.2151+2T>A
1 paper
NM_004826.4
p.L703ins1
c.2107_2108insAGG
1 paper
NM_004826.4
p.R702L
c.2105G>T
1 paper
NM_004826.4
p.G695D
c.2084G>A
1 paper
NM_004826.4
p.W690*
c.2069G>A
1 paper
NM_004826.4
p.Q717_N718Splc
c.2152-15C>A
1 paper
NM_004826.4
p.R724Q
c.2171G>A
1 paper
NM_004826.4
p.I728delFs
c.2184delG
1 paper
NM_004826.4
p.V732V
c.2196G>T
3 papers
NM_004826.4
p.R743M
c.2228G>T
1 paper
NM_004826.4
p.H685_A686Splc
c.2055+1G>A
17 papers
NM_004826.4
p.A675T
c.2023G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."