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

1–12 of 163 variants

16 papers

NM_005327.7

p.R236*

c.706C>T

16 papers

NM_005327.7

p.P258L

c.773C>T

14 papers

NM_005327.7

p.K212_D213Splc

c.636+471G>T

10 papers

NM_005327.7

p.G237Splc

c.710-2A>G

8 papers

NM_005327.7

p.L86P

c.257T>C

8 papers

NM_005327.7

p.M188V

c.562A>G

7 papers

NM_005327.7

p.V209I

c.625G>A

6 papers

NM_005327.7

p.A40T

c.118G>A

5 papers

NM_005327.7

p.D57E

c.171C>A

5 papers

NM_005327.7

p.F92C

c.275T>G

5 papers

NM_005327.7

p.P215T

c.643C>A

4 papers

NM_005327.7

p.D57G

c.170A>G