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

9 papers

NM_000183.3

p.N389D

c.1165A>G

Surrounding Variants

1 paper

NM_000183.3

p.A388T

c.1162G>A

1 paper

NM_000183.3

p.A392_M393del1

c.1175_1177delCCA

11 papers

NM_000183.3

p.A392V

c.1175C>T

2 papers

NM_000183.3

p.Q385P

c.1154A>C

1 paper

NM_000183.3

p.Q385L

c.1154A>T

1 paper

NM_000183.3

p.S383_G384Splc

c.1150-1G>T

1 paper

NM_000183.3

p.W397R

c.1189T>A

1 paper

NM_000183.3

p.W397R

c.1189T>C

2 papers

NM_000183.3

p.F398L

c.1192T>C

2 papers

NM_000183.3

p.F398L

c.1194T>A

2 papers

NM_000183.3

p.F398L

c.1194T>G

2 papers

NM_000183.3

p.E400*

c.1198G>T