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

1–12 of 288 variants

15 papers

NM_000183.3

p.R247C

c.739C>T

14 papers

NM_000183.3

p.R61H

c.182G>A

12 papers

NM_000183.3

p.R247H

c.740G>A

12 papers

NM_000183.3

p.R444K

c.1331G>A

11 papers

NM_000183.3

p.A392V

c.1175C>T

9 papers

NM_000183.3

p.N389D

c.1165A>G

8 papers

NM_000183.3

p.T2_I3ins0

c.5_7dupCTA

8 papers

NM_000183.3

p.R61C

c.181C>T

8 papers

NM_000183.3

p.N114D

c.340A>G

8 papers

NM_000183.3

p.V455G

c.1364T>G

7 papers

NM_000183.3

p.S70Splc

c.209+1G>C

7 papers

NM_000183.3

p.H379R

c.1136A>G