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

1 paper

NM_005327.7

p.K136M

c.407A>T

Surrounding Variants

3 papers

NM_005327.7

p.K136E

c.406A>G

1 paper

NM_005327.7

p.D135N

c.403G>A

1 paper

NM_005327.7

p.D135Y

c.403G>T

1 paper

NM_005327.7

p.L134L

c.402G>A

1 paper

NM_005327.7

p.A138V

c.413C>T

1 paper

NM_005327.7

p.R133G

c.397A>G

1 paper

NM_005327.7

p.E140K

c.418G>A

1 paper

NM_005327.7

p.E140delFs

c.419delA

1 paper

NM_005327.7

p.E140Splc

c.419+1G>A

1 paper

NM_005327.7

p.E140Splc

c.419+3A>G

1 paper

NM_005327.7

p.L130F

c.388C>T

1 paper

NM_005327.7

p.E129D

c.387G>T