Varaico: Literature-Extracted Genetic Variants

Gene:ECI1
Variant:p.M1R

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.M1R
c.2T>G
Surrounding Variants
1 paper
NM_001919.4
p.M1V
c.1A>G
1 paper
NM_001919.4
p.A2V
c.5C>T
1 paper
NM_001919.4
p.E30G
c.89A>G
1 paper
NM_001919.4
p.D37delFs
c.109_110delTC
1 paper
NM_001919.4
p.R40Q
c.119G>A
1 paper
NM_001919.4
p.E50A
c.149A>C
1 paper
NM_001919.4
p.E50D
c.150G>T
1 paper
NM_001919.4
p.D52E
c.156C>A
1 paper
NM_001919.4
p.A53G
c.158C>G
1 paper
NM_001919.4
p.A58S
c.172G>T
1 paper
NM_001919.4
p.P65S
c.193C>T
1 paper
NM_001919.4
p.P66fs
c.196_197fs
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