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.T294S

c.881C>G

Surrounding Variants

1 paper

NM_000182.5

p.T294I

c.881C>T

1 paper

NM_000182.5

p.K292N

c.876G>T

1 paper

NM_000182.5

p.K292N

c.876G>C

1 paper

NM_000182.5

p.G296D

c.887G>A

1 paper

NM_000182.5

p.R291Q

c.872G>A

8 papers

NM_000182.5

p.R291*

c.871C>T

1 paper

NM_000182.5

p.V290A

c.869T>C

1 paper

NM_000182.5

p.K289E

c.865A>G

1 paper

NM_000182.5

p.A300S

c.898G>T

1 paper

NM_000182.5

p.A300T

c.898G>A

1 paper

NM_000182.5

p.L302fs

c.904_905fs

1 paper

NM_000182.5

p.K284_K285delFs

c.852_855del4