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

2 papers

NM_005327.7

p.E84K

c.250G>A

Surrounding Variants

2 papers

NM_005327.7

p.F82insFs

c.245_246insT

8 papers

NM_005327.7

p.L86P

c.257T>C

1 paper

NM_005327.7

p.L86R

c.257T>G

1 paper

NM_005327.7

p.K81*

c.241A>T

1 paper

NM_005327.7

p.K87_A88Splc

c.261+1G>A

2 papers

NM_005327.7

p.A78V

c.233C>T

2 papers

NM_005327.7

p.K67N

c.201A>C

2 papers

NM_005327.7

p.K67N

c.201A>T

1 paper

NM_005327.7

p.D61G

c.182A>G

1 paper

NM_005327.7

p.D61Y

c.181G>T

5 papers

NM_005327.7

p.D57E

c.171C>A

2 papers

NM_005327.7

p.D57E

c.171C>G