Varaico: Literature-Extracted Genetic Variants

Gene:ECE1
Variant:p.T354A

ECE1

170 papers

RefSeq Summary

The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardia...

Pfam Domains

Peptidase_M13_Naa 121–507UCSCPeptidase family M13
Peptidase_M13aa 566–769UCSCPeptidase family M13

Gene Aliases

HGNC Name

endothelin converting enzyme 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001397.3
p.T354A
c.1060A>G
Surrounding Variants
1 paper
NM_001397.3
p.P344_I355del12
c.1030_1064del36
1 paper
NM_001397.3
p.F356C
c.1067T>G
1 paper
NM_001397.3
p.E365K
c.1093G>A
1 paper
NM_001397.3
p.A343T
c.1027G>A
6 papers
NM_001397.3
p.T341I
c.1022C>T
1 paper
NM_001397.3
p.Q340_T341Splc
c.1021-2A>G
1 paper
NM_001397.3
p.I382T
c.1145T>C
1 paper
NM_001397.3
p.I382I
c.1146C>T
1 paper
NM_001397.3
p.L389delFs
c.1166delA
1 paper
NM_001397.3
p.I395T
c.1184T>C
2 papers
NM_001397.3
p.N397S
c.1190A>G
1 paper
NM_001397.3
p.L398P
c.1193T>C
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