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.H249_S250insFs

c.747_748dupCA

Surrounding Variants

1 paper

NM_000183.3

p.S250fs

c.748_749fs

12 papers

NM_000183.3

p.R247H

c.740G>A

15 papers

NM_000183.3

p.R247C

c.739C>T

1 paper

NM_000183.3

p.A245V

c.734C>T

3 papers

NM_000183.3

p.A252insFs

c.754_755insCT

1 paper

NM_000183.3

p.A252G

c.755C>G

1 paper

NM_000183.3

p.A252_K253del1

c.756_758delCAA

1 paper

NM_000183.3

p.K253_A255del3

c.757_764del9

1 paper

NM_000183.3

p.K254_Q256del3

c.760_767del9

1 paper

NM_000183.3

p.Y244delFs

c.732delT

2 papers

NM_000183.3

p.E243_Y244insFs

c.729_730insTT

3 papers

NM_000183.3

p.D242G

c.725A>G