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

9 papers

NM_000182.5

p.K60_V61Splc

c.180+3A>G

Surrounding Variants

2 papers

NM_000182.5

p.K60_V61Splc

c.180+1G>A

1 paper

NM_000182.5

p.K60R

c.179A>G

1 paper

NM_000182.5

p.K60Q

c.178A>C

1 paper

NM_000182.5

p.K60_V61Splc

c.180+10T>C

1 paper

NM_000182.5

p.S59L

c.176C>T

1 paper

NM_000182.5

p.P57delFs

c.171delG

1 paper

NM_000182.5

p.P57del1

c.169_171delGGG

1 paper

NM_000182.5

p.S56S

c.168T>A

1 paper

NM_000182.5

p.I54delFs

c.162delA

2 papers

NM_000182.5

p.R53Q

c.158G>A

2 papers

NM_000182.5

p.R53*

c.157C>T

1 paper

NM_000182.5

p.R53fs

c.157_158fs