Varaico: Literature-Extracted Genetic Variants

Gene:ECHS1
Variant:p.F33S

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
17 papers
NM_004092.4
p.F33S
c.98T>C
Surrounding Variants
2 papers
NM_004092.4
p.A31A
c.93T>A
7 papers
NM_004092.4
p.A31fs
c.91_92fs
1 paper
NM_004092.4
p.A31S
c.91G>T
2 papers
NM_004092.4
p.G30delFs
c.90delA
1 paper
NM_004092.4
p.A38P
c.112G>C
6 papers
NM_004092.4
p.G42fs
c.124_125fs
11 papers
NM_004092.4
p.R41_G42delFs
c.123_124delCT
1 paper
NM_004092.4
p.K43insFs
c.129dupG
2 papers
NM_004092.4
p.V47M
c.139G>A
1 paper
NM_004092.4
p.G42_T46delFs
c.126_138del13
2 papers
NM_004092.4
p.L49S
c.146T>C
5 papers
NM_004092.4
p.R54C
c.160C>T
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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."