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.S82insFs

c.244_245insT

Surrounding Variants

1 paper

NM_000182.5

p.S82insFs

c.245_246insT

1 paper

NM_000182.5

p.Q84*

c.250C>T

1 paper

NM_000182.5

p.S87R

c.259A>C

1 paper

NM_000182.5

p.S87R

c.261T>G

1 paper

NM_000182.5

p.S87R

c.261T>A

1 paper

NM_000182.5

p.V89G

c.266T>G

1 paper

NM_000182.5

p.S92fs

c.274_275fs

2 papers

NM_000182.5

p.S92fs

c.274_275fs

1 paper

NM_000182.5

p.S93*

c.278C>G

11 papers

NM_000182.5

p.S92_S93delFs

c.274_278del5

1 paper

NM_000182.5

p.S70P

c.208T>C

1 paper

NM_000182.5

p.L68_H69del2

c.202_206del6