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.M1insFs

c.1_2insCT

Surrounding Variants

1 paper

NM_000183.3

p.M1insFs

c.2_3insT

1 paper

NM_000183.3

p.M1V

c.1A>G

3 papers

NM_000183.3

p.M1T

c.2T>C

1 paper

NM_000183.3

p.M1R

c.2T>G

1 paper

NM_000183.3

p.M1ins1

c.2_3insGAC

2 papers

NM_000183.3

p.M1I

c.3G>A

2 papers

NM_000183.3

p.M1I

c.3G>C

1 paper

NM_000183.3

p.T2ins1

c.4_5insATA

8 papers

NM_000183.3

p.T2_I3ins0

c.5_7dupCTA

2 papers

NM_000183.3

p.M1I

c.3G>T

1 paper

NM_000183.3

p.T2ins1

c.4_5insACT

1 paper

NM_000183.3

p.T2_I3insT

c.4_8ins3