Varaico: Literature-Extracted Genetic Variants

Gene:ECEL1
Variant:p.V774M

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.V774M
c.2320G>A
Surrounding Variants
1 paper
NM_004826.4
p.C772G
c.2314T>G
2 papers
NM_004826.4
p.C772R
c.2314T>C
1 paper
NM_004826.4
p.C772S
c.2314T>A
1 paper
NM_004826.4
p.D763G
c.2288A>G
1 paper
NM_004826.4
p.C760F
c.2279G>T
1 paper
NM_004826.4
p.C760G
c.2278T>G
12 papers
NM_004826.4
p.C760R
c.2278T>C
3 papers
NM_004826.4
p.R743M
c.2228G>T
1 paper
NM_004826.4
p.R743Splc
c.2229-1G>A
3 papers
NM_004826.4
p.R743M
c.2228G>T
1 paper
NM_004826.4
p.V732V
c.2196G>T
1 paper
NM_004826.4
p.I728delFs
c.2184delG
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