Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.L442L

ECE2

58 papers

Pfam Domains

Peptidase_M13_Naa 162–548UCSCPeptidase family M13
Peptidase_M13aa 607–810UCSCPeptidase family M13

Gene Aliases

HGNC Name

endothelin converting enzyme 2

HGNC Alias Symbols

KIAA0604; MGC2408

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100121.2
p.L442L
c.1326G>A
Surrounding Variants
2 papers
NM_001100121.2
p.L438F
c.1312C>T
1 paper
NM_001100121.2
p.I458_A459Splc
c.1374+5G>A
1 paper
NM_001100121.2
p.L474L
c.1422G>A
1 paper
NM_001100121.2
p.M498V
c.1492A>G
1 paper
NM_001100121.2
p.D516N
c.1546G>A
1 paper
NM_001100121.2
p.G517G
c.1551G>A
1 paper
NM_001100121.2
p.G517_Y518Splc
c.1551+3G>C
1 paper
NM_001100121.2
p.Y417C
c.1250A>G
1 paper
NM_001100121.2
p.A408V
c.1223C>T
1 paper
NM_001100121.2
p.R403Q
c.1208G>A
2 papers
NM_001037324.3
p.R374*
c.1120C>T
1 paper
NM_001100121.2
p.S524insFs
c.1571_1572insC
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