Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1

ECHS1

184 papers

RefSeq Summary

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-...

Pfam Domains

ECH_1aa 42–290UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA hydratase, short chain 1

HGNC Alias Symbol

SCEH

Papers
RefSeq ID
Protein change
DNA change
1–12 of 195 variants
42 papers
NM_004092.4
p.Q159R
c.476A>G
35 papers
NM_004092.4
p.A173V
c.518C>T
32 papers
NM_004092.4
p.N59S
c.176A>G
27 papers
NM_004092.4
p.K273E
c.817A>G
25 papers
NM_004092.4
p.T180A
c.538A>G
24 papers
NM_004092.4
p.A2V
c.5C>T
20 papers
NM_004092.4
p.R54H
c.161G>A
20 papers
NM_004092.4
p.A238V
c.713C>T
17 papers
NM_004092.4
p.F33S
c.98T>C
17 papers
NM_004092.4
p.G195S
c.583G>A
15 papers
NM_004092.4
p.A132T
c.394G>A
15 papers
NM_004092.4
p.A138V
c.413C>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."