Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.A81G

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.A81G
c.242C>G
Surrounding Variants
1 paper
NM_004826.4
p.L82P
c.245T>C
1 paper
NM_004826.4
p.G71R
c.211G>C
1 paper
NM_004826.4
p.G93fs
c.277_278fs
1 paper
NM_004826.4
p.G98S
c.292G>A
2 papers
NM_004826.4
p.C99Y
c.296G>A
1 paper
NM_004826.4
p.N56S
c.167A>G
1 paper
NM_004826.4
p.R107H
c.320G>A
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.N115ins1
c.344_345insGGT
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