Varaico: Literature-Extracted Genetic Variants

Gene:ECE2

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
1–12 of 69 variants
2 papers
NM_001100121.2
p.L8L
c.22C>T
2 papers
NM_001100121.2
p.R186C
c.556C>T
2 papers
NM_001037324.3
p.R374*
c.1120C>T
2 papers
NM_001100121.2
p.L438F
c.1312C>T
1 paper
NM_001100121.2
p.M1insFs
c.2_3insT
1 paper
NM_001100121.2
p.A4S
c.10G>T
1 paper
NM_001100121.2
p.A4V
c.11C>T
1 paper
NM_001100121.2
p.G9R
c.25G>A
1 paper
NM_001100121.2
p.G9R
c.25G>C
1 paper
NM_001100121.2
p.A10A
c.30T>C
1 paper
NM_001100121.2
p.M14L
c.40A>T
1 paper
NM_001100121.2
p.R19Q
c.56G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."