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.D374insFs

c.1120_1121ins4

Surrounding Variants

2 papers

NM_000183.3

p.I373insFs

c.1119dupT

3 papers

NM_000183.3

p.D372V

c.1115A>T

1 paper

NM_000183.3

p.D372insFs

c.1114dupG

1 paper

NM_000183.3

p.N371D

c.1111A>G

1 paper

NM_000183.3

p.M370V

c.1108A>G

7 papers

NM_000183.3

p.H379R

c.1136A>G

2 papers

NM_000183.3

p.H379delFs

c.1137delT

1 paper

NM_000183.3

p.A381insFs

c.1141_1142ins4

2 papers

NM_000183.3

p.A381fs

c.1141_1142fs

1 paper

NM_000183.3

p.A381insFs

c.1142_1143ins4

1 paper

NM_000183.3

p.A381V

c.1142C>T

1 paper

NM_000183.3

p.F382I

c.1144T>A