Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.Q159R

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
42 papers
NM_004092.4
p.Q159R
c.476A>G
Surrounding Variants
1 paper
NM_004092.4
p.Q159P
c.476A>C
1 paper
NM_004092.4
p.Q159delins
c.476_477delinsGGCATAGA
1 paper
NM_004092.4
p.F160ins2
c.478_479ins6
3 papers
NM_004092.4
p.A158V
c.473C>T
13 papers
NM_004092.4
p.A158D
c.473C>A
1 paper
NM_004092.4
p.A161V
c.482C>T
1 paper
NM_004092.4
p.G155G
c.465T>C
1 paper
NM_004092.4
p.P163L
c.488C>T
7 papers
NM_004092.4
p.P163P
c.489G>A
5 papers
NM_004092.4
p.G155S
c.463G>A
1 paper
NM_004092.4
p.E164Q
c.490G>C
4 papers
NM_004092.4
p.Y153C
c.458A>G
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