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

16 papers

NM_005327.7

p.R236*

c.706C>T

Surrounding Variants

1 paper

NM_005327.7

p.I231delFs

c.693delC

1 paper

NM_005327.7

p.E229G

c.686A>G

2 papers

NM_005327.7

p.E229K

c.685G>A

3 papers

NM_005327.7

p.Y226H

c.676T>C

1 paper

NM_005327.7

p.G237Splc

c.709+39C>G

1 paper

NM_005327.7

p.R221H

c.662G>A

1 paper

NM_005327.7

p.R221C

c.661C>T

5 papers

NM_005327.7

p.P215T

c.643C>A

14 papers

NM_005327.7

p.K212_D213Splc

c.636+471G>T

4 papers

NM_005327.7

p.K212_D213Splc

c.636+385A>G

1 paper

NM_005327.7

p.K212_D213Splc

c.636+32G>C

1 paper

NM_005327.7

p.K212_D213Splc

c.636+1G>A