Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_004092.4
p.M1L
c.1A>T
11 papers
NM_004092.4
p.M1V
c.1A>G
10 papers
NM_004092.4
p.M1R
c.2T>G
2 papers
NM_004092.4
p.M1T
c.2T>C
1 paper
NM_004092.4
p.M1I
c.3G>C
24 papers
NM_004092.4
p.A2V
c.5C>T
9 papers
NM_004092.4
p.A3D
c.8C>A
1 paper
NM_004092.4
p.V6V
c.18C>T
9 papers
NM_004092.4
p.L8P
c.23T>C
9 papers
NM_004092.4
p.V11A
c.32T>C
1 paper
NM_004092.4
p.V11insFs
c.33dupC
1 paper
NM_004092.4
p.R12R
c.36C>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."