Varaico: Literature-Extracted Genetic Variants

Gene:ECH1

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
1–12 of 31 variants
7 papers
NM_001398.3
p.E41A
c.122A>C
5 papers
NM_001398.3
p.G217R
c.649G>C
5 papers
NM_001398.3
p.G217R
c.649G>A
3 papers
NM_001398.3
p.T180A
c.538A>G
2 papers
NM_001398.3
p.A2V
c.5C>T
2 papers
NM_001398.3
p.A3V
c.8C>T
2 papers
NM_001398.3
p.R143C
c.427C>T
1 paper
NM_001398.3
p.M1V
c.1A>G
1 paper
NM_001398.3
p.M1R
c.2T>G
1 paper
NM_001398.3
p.V6L
c.16G>T
1 paper
NM_001398.3
p.V6L
c.16G>C
1 paper
NM_001398.3
p.D13N
c.37G>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."