Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.A96D

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.A96D
c.287C>A
Surrounding Variants
2 papers
NM_004092.4
p.A98T
c.292G>A
1 paper
NM_004092.4
p.A98V
c.293C>T
1 paper
NM_004092.4
p.A98G
c.293C>G
1 paper
NM_004092.4
p.D99G
c.296A>G
3 papers
NM_004092.4
p.I100T
c.299T>C
1 paper
NM_004092.4
p.K101Q
c.301A>C
1 paper
NM_004092.4
p.M103T
c.308T>C
5 papers
NM_004092.4
p.Q104E
c.310C>G
1 paper
NM_004092.4
p.F108L
c.322T>C
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.H119Q
c.357C>G
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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."