Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.E216G

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
2 papers
NM_004092.4
p.E216G
c.647A>G
Surrounding Variants
1 paper
NM_004092.4
p.E216K
c.646G>A
1 paper
NM_004092.4
p.P214L
c.641C>T
2 papers
NM_004092.4
p.A222T
c.664G>A
1 paper
NM_004092.4
p.I223F
c.667A>T
15 papers
NM_004092.4
p.C225R
c.673T>C
13 papers
NM_004092.4
p.C225S
c.673T>A
14 papers
NM_004092.4
p.C225S
c.674G>C
2 papers
NM_004092.4
p.G207S
c.619G>A
1 paper
NM_004092.4
p.I235delFs
c.705delA
2 papers
NM_004092.4
p.V236A
c.707T>C
20 papers
NM_004092.4
p.A238V
c.713C>T
1 paper
NM_004092.4
p.E242K
c.724G>A
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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."