Varaico: Literature-Extracted Genetic Variants

Gene:ECE2
Variant:p.R374*

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
2 papers
NM_001037324.3
p.R374*
c.1120C>T
Surrounding Variants
1 paper
NM_001100121.2
p.R403Q
c.1208G>A
1 paper
NM_001100121.2
p.A408V
c.1223C>T
1 paper
NM_001100121.2
p.Y417C
c.1250A>G
1 paper
NM_001100121.2
p.L344R
c.1031T>G
1 paper
NM_001100121.2
p.M329V
c.985A>G
1 paper
NM_001100121.2
p.Q298H
c.894G>T
1 paper
NM_001100121.2
p.K272_V273Splc
c.817-1G>C
2 papers
NM_001100121.2
p.L438F
c.1312C>T
1 paper
NM_001100121.2
p.L442L
c.1326G>A
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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."