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

12 papers

NM_000182.5

p.Q378*

c.1132C>T

Surrounding Variants

1 paper

NM_000182.5

p.V379delFs

c.1137delG

1 paper

NM_000182.5

p.S380F

c.1139C>T

1 paper

NM_000182.5

p.G370R

c.1108G>C

1 paper

NM_000182.5

p.G370R

c.1108G>A

1 paper

NM_000182.5

p.T387P

c.1159A>C

1 paper

NM_000182.5

p.L364R

c.1091T>G

1 paper

NM_000182.5

p.A392P

c.1174G>C

1 paper

NM_000182.5

p.A392_T393del1

c.1175_1177delTGG

1 paper

NM_000182.5

p.A396G

c.1187C>G

1 paper

NM_000182.5

p.D398G

c.1193A>G

6 papers

NM_000182.5

p.R399*

c.1195C>T

1 paper

NM_000182.5

p.R399Q

c.1196G>A