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.G434V

c.1301G>T

Surrounding Variants

1 paper

NM_000183.3

p.G434C

c.1300G>T

1 paper

NM_000183.3

p.G434delFs

c.1300delG

5 papers

NM_000183.3

p.F430S

c.1289T>C

1 paper

NM_000183.3

p.M439L

c.1315A>T

2 papers

NM_000183.3

p.G427E

c.1280G>A

12 papers

NM_000183.3

p.R444K

c.1331G>A

1 paper

NM_000183.3

p.S423Y

c.1268C>A

1 paper

NM_000183.3

p.W420G

c.1258T>G

1 paper

NM_000183.3

p.G450C

c.1348G>T

2 papers

NM_000183.3

p.V455A

c.1364T>C

8 papers

NM_000183.3

p.V455G

c.1364T>G

1 paper

NM_000183.3

p.A457V

c.1370C>T