Varaico: Literature-Extracted Genetic Variants

Gene:ECI1

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
1–12 of 44 variants
3 papers
NM_001919.4
p.T76M
c.227C>T
2 papers
NM_001919.4
p.D88E
c.264C>G
2 papers
NM_001919.4
p.D88E
c.264C>A
2 papers
NM_001919.4
p.R92C
c.274C>T
2 papers
NM_001919.4
p.G93S
c.277G>A
2 papers
NM_001919.4
p.G107S
c.319G>A
2 papers
NM_001919.4
p.W188Splc
c.563+1G>T
1 paper
NM_001919.4
p.M1V
c.1A>G
1 paper
NM_001919.4
p.M1R
c.2T>G
1 paper
NM_001919.4
p.A2V
c.5C>T
1 paper
NM_001919.4
p.E30G
c.89A>G
1 paper
NM_001919.4
p.D37delFs
c.109_110delTC
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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."