Varaico: Literature-Extracted Genetic Variants

Gene:ECH1
Variant:p.M1R

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
1 paper
NM_001398.3
p.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001398.3
p.M1V
c.1A>G
2 papers
NM_001398.3
p.A2V
c.5C>T
2 papers
NM_001398.3
p.A3V
c.8C>T
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
1 paper
NM_001398.3
p.S28G
c.82A>G
1 paper
NM_001398.3
p.S37P
c.109T>C
7 papers
NM_001398.3
p.E41A
c.122A>C
1 paper
NM_001398.3
p.N79H
c.235A>C
1 paper
NM_001398.3
p.K95R
c.284A>G
1 paper
NM_001398.3
p.R103P
c.308G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."