Varaico: Literature-Extracted Genetic Variants

Gene:ECI1
Variant:p.D109_L110del0

ECI1

49 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

ECH_1aa 52–301UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA delta isomerase 1

HGNC Previous Symbol

DCI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001919.4
p.D109_L110del0
c.325_330del6
Surrounding Variants
2 papers
NM_001919.4
p.G107S
c.319G>A
1 paper
NM_001919.4
p.A122T
c.364G>A
1 paper
NM_001919.4
p.L131P
c.392T>C
1 paper
NM_001919.4
p.G148G
c.444A>T
1 paper
NM_001919.4
p.A152T
c.454G>A
1 paper
NM_001919.4
p.A158D
c.473C>A
1 paper
NM_001919.4
p.L159L
c.477G>A
1 paper
NM_001919.4
p.D162A
c.485A>C
1 paper
NM_001919.4
p.A167A
c.501G>A
1 paper
NM_001919.4
p.I174T
c.521T>C
1 paper
NM_001919.4
p.A185T
c.553G>A
2 papers
NM_001919.4
p.W188Splc
c.563+1G>T
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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."