Varaico: Literature-Extracted Genetic Variants

HADH

252 papers

RefSeq Summary

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as pa...

Pfam Domains

3HCDH_Naa 29–214UCSC3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

3HCDHaa 216–313UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

hydroxyacyl-CoA dehydrogenase

HGNC Previous Symbol

HADHSC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_005327.7

p.G237Splc

c.710-2A>G

Surrounding Variants

1 paper

NM_005327.7

p.G237_D238delFs

c.711_712delTG

1 paper

NM_005327.7

p.D238E

c.714C>G

2 papers

NM_005327.7

p.S240F

c.719C>T

1 paper

NM_005327.7

p.G237Splc

c.710-22A>C

1 paper

NM_005327.7

p.D243_I244insFs

c.729_730insTT

1 paper

NM_005327.7

p.I244delFs

c.732delT

1 paper

NM_005327.7

p.I244I

c.732T>C

1 paper

NM_005327.7

p.D245_T246insT

c.733_737ins3

1 paper

NM_005327.7

p.G251R

c.751G>C

1 paper

NM_005327.7

p.G253S

c.757G>A

1 paper

NM_005327.7

p.Y254H

c.760T>C

16 papers

NM_005327.7

p.P258L

c.773C>T