Varaico: Literature-Extracted Genetic Variants

Gene:ECI2
Variant:p.K161N

ECI2

35 papers

RefSeq Summary

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformat...

Pfam Domains

ACBPaa 10–85UCSCAcyl CoA binding protein
ECH_1aa 115–363UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA delta isomerase 2

HGNC Previous Symbol

PECI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_206836.3
p.K161N
c.483A>C
Surrounding Variants
1 paper
NM_206836.3
p.K161N
c.483A>T
1 paper
NM_206836.3
p.R134R
c.402G>A
1 paper
NM_206836.3
p.Q127*
c.379C>T
1 paper
NM_206836.3
p.E123A
c.368A>C
1 paper
NM_206836.3
p.V112M
c.334G>A
1 paper
NM_206836.3
p.N110T
c.329A>C
1 paper
NM_206836.3
p.P76insFs
c.227dupC
1 paper
NM_206836.3
p.R174C
c.520C>T
1 paper
NM_206836.3
p.I172_M173delFs
c.516_519del4
2 papers
NM_206836.3
p.M47I
c.141G>T
2 papers
NM_206836.3
p.M47I
c.141G>C
2 papers
NM_206836.3
p.M47I
c.141G>A
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