Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.T669fs

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.T669fs
c.2005_2006fs
Surrounding Variants
3 papers
NM_004826.4
p.T669fs
c.2005_2006fs
6 papers
NM_004826.4
p.T669delFs
c.2005_2006delGT
1 paper
NM_004826.4
p.G671E
c.2012G>A
17 papers
NM_004826.4
p.A675T
c.2023G>A
1 paper
NM_004826.4
p.H685_A686Splc
c.2055+1G>A
1 paper
NM_004826.4
p.W690*
c.2069G>A
1 paper
NM_004826.4
p.G695D
c.2084G>A
1 paper
NM_004826.4
p.R663W
c.1987C>T
1 paper
NM_004826.4
p.R702L
c.2105G>T
1 paper
NM_004826.4
p.L703ins1
c.2107_2108insAGG
1 paper
NM_004826.4
p.K646R
c.1937A>G
1 paper
NM_004826.4
p.K646T
c.1937A>C
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