Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.D270ins2

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
1 paper
NM_004092.4
p.D270ins2
c.809_810ins6
Surrounding Variants
2 papers
NM_004092.4
p.R272W
c.814C>T
1 paper
NM_004092.4
p.R272Q
c.815G>A
27 papers
NM_004092.4
p.K273E
c.817A>G
2 papers
NM_004092.4
p.K273Q
c.817A>C
2 papers
NM_004092.4
p.M276T
c.827T>C
4 papers
NM_004092.4
p.T277I
c.830C>T
8 papers
NM_004092.4
p.A278T
c.832G>A
4 papers
NM_004092.4
p.A278V
c.833C>T
9 papers
NM_004092.4
p.F279S
c.836T>C
1 paper
NM_004092.4
p.V280G
c.839T>G
7 papers
NM_004092.4
p.E281G
c.842A>G
1 paper
NM_004092.4
p.K282Q
c.844A>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."