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

1–12 of 398 variants

287 papers

NM_000182.5

p.E510Q

c.1528G>C

16 papers

NM_000182.5

p.R560*

c.1678C>T

12 papers

NM_000182.5

p.Q378*

c.1132C>T

11 papers

NM_000182.5

p.S92_S93delFs

c.274_278del5

10 papers

NM_000182.5

p.R235W

c.703C>T

10 papers

NM_000182.5

p.Q563_E564Splc

c.1689+2T>G

9 papers

NM_000182.5

p.K60_V61Splc

c.180+3A>G

9 papers

NM_000182.5

p.T274_V278del5

c.820_833del15

9 papers

NM_000182.5

p.I305N

c.914T>A

8 papers

NM_000182.5

p.R291*

c.871C>T

8 papers

NM_000182.5

p.G319S

c.955G>A

7 papers

NM_000182.5

p.V243A

c.728T>C