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.P276S

c.826C>T

Surrounding Variants

1 paper

NM_000182.5

p.Y271_I275del5

c.811_824del15

1 paper

NM_000182.5

p.P276_F277delFs

c.827_831del5

9 papers

NM_000182.5

p.T274_V278del5

c.820_833del15

6 papers

NM_000182.5

p.V282D

c.845T>A

1 paper

NM_000182.5

p.T269ins1

c.806_807insGCT

1 paper

NM_000182.5

p.T269P

c.805A>C

1 paper

NM_000182.5

p.L268delFs

c.804delC

1 paper

NM_000182.5

p.L268L

c.804G>A

1 paper

NM_000182.5

p.L268S

c.803T>C

1 paper

NM_000182.5

p.K285N

c.855A>T

1 paper

NM_000182.5

p.K285N

c.855A>C

1 paper

NM_000182.5

p.K284_K285delFs

c.852_855del4