Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.Y137delFs

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
3 papers
NM_004092.4
p.Y137delFs
c.410_411delAT
Surrounding Variants
1 paper
NM_004092.4
p.A138S
c.412G>T
1 paper
NM_004092.4
p.A138T
c.412G>A
1 paper
NM_004092.4
p.Y137fs
c.409_410fs
15 papers
NM_004092.4
p.A138V
c.413C>T
2 papers
NM_004092.4
p.Y137fs
c.409_410fs
2 papers
NM_004092.4
p.A138_F139Splc
c.414+1G>A
1 paper
NM_004092.4
p.A138_F139Splc
c.414+2T>G
11 papers
NM_004092.4
p.A138_F139Splc
c.414+3G>C
1 paper
NM_004092.4
p.V126_A138del13
c.376_413del39
3 papers
NM_004092.4
p.A138_F139Splc
c.414+5G>A
3 papers
NM_004092.4
p.N135S
c.404A>G
15 papers
NM_004092.4
p.A132T
c.394G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."