Varaico: Literature-Extracted Genetic Variants

Gene:ECI1
Variant:p.P66fs

ECI1

49 papers

RefSeq Summary

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformat...

Pfam Domains

ECH_1aa 52–301UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA delta isomerase 1

HGNC Previous Symbol

DCI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001919.4
p.P66fs
c.196_197fs
Surrounding Variants
1 paper
NM_001919.4
p.P66delFs
c.197delG
1 paper
NM_001919.4
p.P65S
c.193C>T
1 paper
NM_001919.4
p.L70delFs
c.208delG
1 paper
NM_001919.4
p.A58S
c.172G>T
3 papers
NM_001919.4
p.T76M
c.227C>T
1 paper
NM_001919.4
p.E77Q
c.229G>C
2 papers
NM_001919.4
p.D88E
c.264C>G
2 papers
NM_001919.4
p.D88E
c.264C>A
2 papers
NM_001919.4
p.R92C
c.274C>T
2 papers
NM_001919.4
p.G93S
c.277G>A
2 papers
NM_001919.4
p.G107S
c.319G>A
1 paper
NM_001919.4
p.D109_L110del0
c.325_330del6
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."