Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.N59S

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
32 papers
NM_004092.4
p.N59S
c.176A>G
Surrounding Variants
1 paper
NM_004092.4
p.L52_L58del0
c.156_173del18
1 paper
NM_004092.4
p.A60G
c.179C>G
1 paper
NM_004092.4
p.C62R
c.184T>C
1 paper
NM_004092.4
p.D63N
c.187G>A
20 papers
NM_004092.4
p.R54H
c.161G>A
5 papers
NM_004092.4
p.R54C
c.160C>T
12 papers
NM_004092.4
p.I66T
c.197T>C
2 papers
NM_004092.4
p.E68K
c.202G>A
2 papers
NM_004092.4
p.E68V
c.203A>T
2 papers
NM_004092.4
p.L49S
c.146T>C
1 paper
NM_004092.4
p.G42_T46delFs
c.126_138del13
2 papers
NM_004092.4
p.V47M
c.139G>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."