Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.R136L

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.R136L
c.407G>T
Surrounding Variants
1 paper
NM_004826.4
p.G133_R137delFs
c.398_410del13
1 paper
NM_004826.4
p.G133fs
c.397_398fs
1 paper
NM_004826.4
p.D142G
c.425A>G
3 papers
NM_004826.4
p.D142E
c.426C>G
3 papers
NM_004826.4
p.D142E
c.426C>A
1 paper
NM_004826.4
p.T146I
c.437C>T
11 papers
NM_004826.4
p.N115_S119del0
c.344_355del12
1 paper
NM_004826.4
p.A118del1
c.352_353delGGC
1 paper
NM_004826.4
p.N115ins1
c.344_345insGGT
1 paper
NM_004826.4
p.L165fs
c.493_494fs
6 papers
NM_004826.4
p.L165P
c.494T>C
1 paper
NM_004826.4
p.R107H
c.320G>A
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