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.T548I

c.1643C>T

Surrounding Variants

1 paper

NM_000182.5

p.R549G

c.1645A>G

2 papers

NM_000182.5

p.R549T

c.1646G>C

1 paper

NM_000182.5

p.R549K

c.1646G>A

1 paper

NM_000182.5

p.C550Y

c.1649G>A

1 paper

NM_000182.5

p.Y546C

c.1637A>G

1 paper

NM_000182.5

p.L551F

c.1651C>T

1 paper

NM_000182.5

p.G544delins

c.1630_1631delinsTA

2 papers

NM_000182.5

p.A552V

c.1655C>T

2 papers

NM_000182.5

p.M555R

c.1664T>G

1 paper

NM_000182.5

p.M555del1

c.1663_1664delCAT

1 paper

NM_000182.5

p.S556delFs

c.1667delG

16 papers

NM_000182.5

p.R560*

c.1678C>T