Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.R283G

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.R283G
c.847A>G
Surrounding Variants
1 paper
NM_004092.4
p.K284fs
c.850_851fs
1 paper
NM_004092.4
p.K282Q
c.844A>C
7 papers
NM_004092.4
p.E281G
c.842A>G
3 papers
NM_004092.4
p.R283_K284delFs
c.849_852del4
1 paper
NM_004092.4
p.V280G
c.839T>G
9 papers
NM_004092.4
p.F279S
c.836T>C
1 paper
NM_004092.4
p.F287L
c.859T>C
4 papers
NM_004092.4
p.A278V
c.833C>T
1 paper
NM_004092.4
p.F287L
c.861C>G
1 paper
NM_004092.4
p.F287L
c.861C>A
8 papers
NM_004092.4
p.A278T
c.832G>A
4 papers
NM_004092.4
p.T277I
c.830C>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."