Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.G197D

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
16 papers
NM_004826.4
p.G197D
c.590G>A
Surrounding Variants
7 papers
NM_004826.4
p.G197S
c.589G>A
3 papers
NM_004826.4
p.M201T
c.602T>C
1 paper
NM_004826.4
p.E192*
c.574G>T
1 paper
NM_004826.4
p.G209V
c.626G>T
1 paper
NM_004826.4
p.R185C
c.553C>T
2 papers
NM_004826.4
p.W211C
c.633G>T
3 papers
NM_004826.4
p.W211C
c.633G>C
4 papers
NM_004826.4
p.K179E
c.535A>G
2 papers
NM_004826.4
p.G169_Q177delFs
c.505_529del25
1 paper
NM_004826.4
p.A175T
c.523G>A
2 papers
NM_004826.4
p.L165_G173delFs
c.493_517del25
1 paper
NM_004826.4
p.R163_G173delFs
c.489_517del29
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."