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.S70Splc

c.209+1G>A

Surrounding Variants

7 papers

NM_000183.3

p.S70Splc

c.209+1G>C

1 paper

NM_000183.3

p.S70*

c.209C>A

1 paper

NM_000183.3

p.S70*

c.209C>G

1 paper

NM_000183.3

p.S70P

c.208T>C

1 paper

NM_000183.3

p.S70Splc

c.209+4A>T

1 paper

NM_000183.3

p.S67P

c.199T>C

1 paper

NM_000183.3

p.L65S

c.194T>C

1 paper

NM_000183.3

p.P63P

c.189A>T

1 paper

NM_000183.3

p.T62insFs

c.186dupT

2 papers

NM_000183.3

p.T62A

c.184A>G

14 papers

NM_000183.3

p.R61H

c.182G>A

8 papers

NM_000183.3

p.R61C

c.181C>T