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

4 papers

NM_000183.3

p.R229Q

c.686G>A

Surrounding Variants

3 papers

NM_000183.3

p.R229L

c.686G>T

5 papers

NM_000183.3

p.R229*

c.685C>T

3 papers

NM_000183.3

p.A231delFs

c.693delC

1 paper

NM_000183.3

p.A231_A232insFs

c.693_696dup4

1 paper

NM_000183.3

p.A231G

c.692C>G

3 papers

NM_000183.3

p.A232T

c.694G>A

2 papers

NM_000183.3

p.A232fs

c.694_695fs

1 paper

NM_000183.3

p.S226A

c.676T>G

1 paper

NM_000183.3

p.A233fs

c.697_698fs

1 paper

NM_000183.3

p.A233insFs

c.697_698insTT

1 paper

NM_000183.3

p.A235insFs

c.703_704dupGC

1 paper

NM_000183.3

p.E221K

c.661G>A