Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.N56S

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.N56S
c.167A>G
Surrounding Variants
4 papers
NM_004826.4
p.P53L
c.158C>T
4 papers
NM_004826.4
p.P53Q
c.158C>A
9 papers
NM_004826.4
p.F37_L52delFs
c.110_155del46
1 paper
NM_004826.4
p.L52P
c.155T>C
1 paper
NM_004826.4
p.A45T
c.133G>A
2 papers
NM_004826.4
p.S44R
c.132C>G
2 papers
NM_004826.4
p.S44R
c.132C>A
2 papers
NM_004826.4
p.S44R
c.130A>C
1 paper
NM_004826.4
p.G71R
c.211G>C
5 papers
NM_004826.4
p.F37fs
c.109_110fs
5 papers
NM_004826.4
p.F37fs
c.109_110fs
1 paper
NM_004826.4
p.G36D
c.107G>A
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