Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.H119Q

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.H119Q
c.357C>A
Surrounding Variants
1 paper
NM_004092.4
p.H119Q
c.357C>G
1 paper
NM_004092.4
p.H122R
c.365A>G
3 papers
NM_004092.4
p.L123F
c.367C>T
1 paper
NM_004092.4
p.L123P
c.368T>C
3 papers
NM_004092.4
p.T124I
c.371C>T
5 papers
NM_004092.4
p.L123_T124del2
c.367_371del6
1 paper
NM_004092.4
p.V126I
c.376G>A
12 papers
NM_004092.4
p.V130D
c.389T>A
1 paper
NM_004092.4
p.F108L
c.324C>G
1 paper
NM_004092.4
p.F108L
c.324C>A
1 paper
NM_004092.4
p.I131F
c.391A>T
1 paper
NM_004092.4
p.F108L
c.322T>C
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."