Varaico: Literature-Extracted Genetic Variants

Gene:ECHDC2
Variant:p.R194*

ECHDC2

27 papers

Pfam Domains

ECH_1aa 37–124UCSCEnoyl-CoA hydratase/isomerase
ECH_1aa 114–244UCSCEnoyl-CoA hydratase/isomerase

Gene Aliases

HGNC Name

enoyl-CoA hydratase domain containing 2

HGNC Alias Symbol

FLJ10948

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001198961.2
p.R194*
c.580C>T
Surrounding Variants
1 paper
NM_001198961.2
p.S197_E200insFs
c.591_600dup10
1 paper
NM_001198961.2
p.L227P
c.680T>C
1 paper
NM_001198961.2
p.T164insFs
c.492dupG
1 paper
NM_001198961.2
p.T164fs
c.490_491fs
1 paper
NM_001198961.2
p.A153Splc
c.457+53T>C
1 paper
NM_001198961.2
p.R150L
c.449G>T
1 paper
NM_001198961.2
p.G139E
c.416G>A
1 paper
NM_001198961.2
p.I121V
c.361A>G
2 papers
NM_001198961.2
p.M118I
c.354G>T
2 papers
NM_001198961.2
p.M118I
c.354G>C
2 papers
NM_001198961.2
p.M118I
c.354G>A
1 paper
NM_001198961.2
p.G116D
c.347G>A
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