Varaico: Literature-Extracted Genetic Variants

Gene:ECI2
Variant:p.A344V

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.A344V
c.1031C>T
Surrounding Variants
1 paper
NM_206836.3
p.K359R
c.1076A>G
1 paper
NM_206836.3
p.E366A
c.1097A>C
1 paper
NM_206836.3
p.V384M
c.1150G>A
1 paper
NM_206836.3
p.R390*
c.1168A>T
1 paper
NM_206836.3
p.Q327H
c.981G>T
1 paper
NM_206836.3
p.Q327H
c.981G>C
1 paper
NM_206836.3
p.K304*
c.910A>T
1 paper
NM_206836.3
p.M291T
c.872T>C
1 paper
NM_206836.3
p.T270S
c.808A>T
1 paper
NM_206836.3
p.R265_A266Splc
c.796-2770T>C
1 paper
NM_206836.3
p.G244A
c.731G>C
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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."