Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.D150G

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
Selected Variant
13 papers
NM_004092.4
p.D150G
c.449A>G
Surrounding Variants
5 papers
NM_004092.4
p.M148I
c.444G>T
4 papers
NM_004092.4
p.M148I
c.444G>C
4 papers
NM_004092.4
p.M148I
c.444G>A
4 papers
NM_004092.4
p.Y153C
c.458A>G
1 paper
NM_004092.4
p.L145fs
c.433_434fs
5 papers
NM_004092.4
p.G155S
c.463G>A
1 paper
NM_004092.4
p.L145P
c.434T>C
1 paper
NM_004092.4
p.G155G
c.465T>C
9 papers
NM_004092.4
p.L145fs
c.433_434fs
13 papers
NM_004092.4
p.L145F
c.433C>T
8 papers
NM_004092.4
p.E144insFs
c.431dupA
3 papers
NM_004092.4
p.A158V
c.473C>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."