Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.K173E

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.K173E
c.517A>G
Surrounding Variants
1 paper
NM_001100121.2
p.E171*
c.511G>T
1 paper
NM_001100121.2
p.L179L
c.535C>T
1 paper
NM_001100121.2
p.C181C
c.543C>T
2 papers
NM_001100121.2
p.R186C
c.556C>T
1 paper
NM_001100121.2
p.K221T
c.662A>C
1 paper
NM_001100121.2
p.S241F
c.722C>T
1 paper
NM_001100121.2
p.S246_Q250delFs
c.738_748del11
1 paper
NM_001100121.2
p.H157Y
c.469C>T
1 paper
NM_001100121.2
p.W148R
c.442T>A
1 paper
NM_001100121.2
p.W148R
c.442T>C
1 paper
NM_001100120.2
p.R186C
c.556C>T
1 paper
NM_001100121.2
p.N270S
c.809A>G
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