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

8 papers

NM_000183.3

p.N114D

c.340A>G

Surrounding Variants

3 papers

NM_000183.3

p.N114S

c.341A>G

1 paper

NM_000183.3

p.N114K

c.342T>A

1 paper

NM_000183.3

p.V115_A116delFs

c.344_347del4

3 papers

NM_000183.3

p.R117G

c.349A>G

1 paper

NM_000183.3

p.I102F

c.304A>T

1 paper

NM_000183.3

p.Y100C

c.299A>G

1 paper

NM_000183.3

p.S92fs

c.274_275fs

1 paper

NM_000183.3

p.S92_V93delFs

c.274_278del5

1 paper

NM_000183.3

p.T91I

c.272C>T

1 paper

NM_000183.3

p.L88_T91del4

c.262_272del12

2 papers

NM_000183.3

p.T85T

c.255G>A

1 paper

NM_000183.3

p.T85Splc

c.255-1G>A