Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.P22L

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.P22L
c.65C>T
Surrounding Variants
1 paper
NM_004092.4
p.P22P
c.66C>T
1 paper
NM_004092.4
p.R25C
c.73C>T
2 papers
NM_004092.4
p.R25H
c.74G>A
4 papers
NM_004092.4
p.F27V
c.79T>G
1 paper
NM_004092.4
p.P14insFs
c.41_42insT
1 paper
NM_004092.4
p.G30Splc
c.88+2T>C
1 paper
NM_004092.4
p.G30Splc
c.88+5G>C
14 papers
NM_004092.4
p.G30Splc
c.88+5G>A
1 paper
NM_004092.4
p.R12R
c.36C>A
1 paper
NM_004092.4
p.V11insFs
c.33dupC
9 papers
NM_004092.4
p.V11A
c.32T>C
9 papers
NM_004092.4
p.L8P
c.23T>C
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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."