Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.F751S

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_001100120.2
p.F751S
c.2252T>C
Surrounding Variants
1 paper
NM_001100121.2
p.G669R
c.2005G>A
1 paper
NM_001100121.2
p.I664insFs
c.1991_1992ins4
1 paper
NM_001100121.2
p.G612Splc
c.1834+1G>A
1 paper
NM_001100121.2
p.G595insFs
c.1783_1784ins4
1 paper
NM_001100121.2
p.V712F
c.2134G>T
1 paper
NM_001100121.2
p.R731L
c.2192G>T
1 paper
NM_001100121.2
p.L738_F748del11
c.2212_2243del33
1 paper
NM_001100121.2
p.L738_F748del0
c.2214_2243del30
1 paper
NM_001100121.2
p.G749S
c.2245G>A
1 paper
NM_001100121.2
p.F582L
c.1746C>A
1 paper
NM_001100121.2
p.E570K
c.1708G>A
1 paper
NM_001100121.2
p.Y563F
c.1688A>T
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