Varaico: Literature-Extracted Genetic Variants

HADHB

308 papers

RefSeq Summary

This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membran...

Pfam Domains

Thiolase_Naa 54–324UCSCThiolase, N-terminal domain

Thiolase_Caa 331–471UCSCThiolase, C-terminal domain

Gene Aliases

HGNC Name

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

HGNC Alias Symbol

MTPB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000183.3

p.G259insFs

c.776_777insT

Surrounding Variants

1 paper

NM_000183.3

p.G259A

c.776G>C

1 paper

NM_000183.3

p.G259V

c.776G>T

2 papers

NM_000183.3

p.G259_L260insFs

c.777_778insT

1 paper

NM_000183.3

p.L261delFs

c.782delT

1 paper

NM_000183.3

p.S262F

c.785C>T

4 papers

NM_000183.3

p.D263G

c.788A>G

1 paper

NM_000183.3

p.K254_Q256del3

c.760_767del9

1 paper

NM_000183.3

p.K253_A255del3

c.757_764del9

1 paper

NM_000183.3

p.A252G

c.755C>G

1 paper

NM_000183.3

p.A252_K253del1

c.756_758delCAA

3 papers

NM_000183.3

p.A252insFs

c.754_755insCT

1 paper

NM_000183.3

p.S250fs

c.748_749fs