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

7 papers

NM_000182.5

p.V243A

c.728T>C

Surrounding Variants

1 paper

NM_000182.5

p.A244S

c.730G>T

1 paper

NM_000182.5

p.V243_A244insFs

c.729_730insTT

3 papers

NM_000182.5

p.A244V

c.731C>T

2 papers

NM_000182.5

p.E242G

c.725A>G

1 paper

NM_000182.5

p.I245_T246insT

c.733_737ins3

1 paper

NM_000182.5

p.I245T

c.734T>C

1 paper

NM_000182.5

p.A248V

c.743C>T

1 paper

NM_000182.5

p.E238G

c.713A>G

1 paper

NM_000182.5

p.I237M

c.711A>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.G250V

c.749G>T