Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.W148R

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.W148R
c.442T>C
Surrounding Variants
1 paper
NM_001100121.2
p.W148R
c.442T>A
1 paper
NM_001100120.2
p.R186C
c.556C>T
1 paper
NM_001100121.2
p.H157Y
c.469C>T
1 paper
NM_001100121.2
p.L107L
c.319C>T
1 paper
NM_001100121.2
p.I106I
c.318C>T
1 paper
NM_001100121.2
p.R101*
c.301C>T
1 paper
NM_001100121.2
p.D88Splc
c.262+1G>A
1 paper
NM_001100120.2
p.L127L
c.379C>T
1 paper
NM_001100121.2
p.A72A
c.216A>G
1 paper
NM_001100121.2
p.A71T
c.211G>A
1 paper
NM_001100121.2
p.L61L
c.181C>T
1 paper
NM_001100121.2
p.Q58Q
c.174G>A
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