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

287 papers

NM_000182.5

p.E510Q

c.1528G>C

Surrounding Variants

3 papers

NM_000182.5

p.E510K

c.1528G>A

1 paper

NM_000182.5

p.I511insFs

c.1533dupT

1 paper

NM_000182.5

p.T514delFs

c.1540delT

1 paper

NM_000182.5

p.E515K

c.1543G>A

2 papers

NM_000182.5

p.K519E

c.1555A>G

1 paper

NM_000182.5

p.K519R

c.1556A>G

4 papers

NM_000182.5

p.H498R

c.1493A>G

1 paper

NM_000182.5

p.M497I

c.1491G>C

1 paper

NM_000182.5

p.V526I

c.1576G>A

2 papers

NM_000182.5

p.V528L

c.1582G>C

1 paper

NM_000182.5

p.G533_K534insT

c.1597_1601ins3

1 paper

NM_000182.5

p.G533A

c.1598G>C