Varaico: Literature-Extracted Genetic Variants

HADHA

558 papers

RefSeq Summary

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membra...

Pfam Domains

ECH_1aa 44–233UCSCEnoyl-CoA hydratase/isomerase

3HCDH_Naa 363–542UCSC3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

3HCDHaa 544–639UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

3HCDHaa 673–760UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha

HGNC Alias Symbols

LCEH; LCHAD; MTPA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000182.5

p.P258L

c.773C>T

Surrounding Variants

2 papers

NM_000182.5

p.S257F

c.770C>T

1 paper

NM_000182.5

p.K259_R260insFs

c.777_778insT

1 paper

NM_000182.5

p.K255N

c.765G>T

1 paper

NM_000182.5

p.K255N

c.765G>C

1 paper

NM_000182.5

p.K254_K255delFs

c.761_764del4

1 paper

NM_000182.5

p.K254N

c.762G>C

1 paper

NM_000182.5

p.V265V

c.795G>A

1 paper

NM_000182.5

p.G250V

c.749G>T

1 paper

NM_000182.5

p.E266G

c.797A>G

1 paper

NM_000182.5

p.K249N

c.747A>T

1 paper

NM_000182.5

p.K249N

c.747A>C

1 paper

NM_000182.5

p.A248V

c.743C>T