Varaico: Literature-Extracted Genetic Variants

Gene:ECH1
Variant:p.R143C

ECH1

45 papers

RefSeq Summary

This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conser...

Pfam Domains

ECH_1aa 62–322UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA hydratase 1

HGNC Alias Symbol

HPXEL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001398.3
p.R143C
c.427C>T
Surrounding Variants
1 paper
NM_001398.3
p.R137delFs
c.410_411delCC
1 paper
NM_001398.3
p.V163V
c.489G>A
1 paper
NM_001398.3
p.G175S
c.523G>A
3 papers
NM_001398.3
p.T180A
c.538A>G
1 paper
NM_001398.3
p.R185W
c.553C>T
1 paper
NM_001398.3
p.K196_E197Splc
c.589-2A>G
5 papers
NM_001398.3
p.G217R
c.649G>C
5 papers
NM_001398.3
p.G217R
c.649G>A
1 paper
NM_001398.3
p.N218D
c.652A>G
1 paper
NM_001398.3
p.N223N
c.669C>T
1 paper
NM_001398.3
p.A226T
c.676G>A
1 paper
NM_001398.3
p.R230H
c.689G>A
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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."