Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.T180A

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
25 papers
NM_004092.4
p.T180A
c.538A>G
Surrounding Variants
1 paper
NM_004092.4
p.T180P
c.538A>C
2 papers
NM_004092.4
p.R181C
c.541C>T
1 paper
NM_004092.4
p.L179V
c.535C>G
4 papers
NM_004092.4
p.R181L
c.542G>T
2 papers
NM_004092.4
p.R181H
c.542G>A
5 papers
NM_004092.4
p.G175S
c.523G>A
2 papers
NM_004092.4
p.S186L
c.557C>T
35 papers
NM_004092.4
p.A173V
c.518C>T
1 paper
NM_004092.4
p.G172S
c.514G>A
8 papers
NM_004092.4
p.A188V
c.563C>T
1 paper
NM_004092.4
p.T194S
c.580A>T
1 paper
NM_004092.4
p.T194S
c.581C>G
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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."