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.G35_A40del0

c.105_119del15

Surrounding Variants

1 paper

NM_005327.7

p.G36del1

c.106_108delGGG

1 paper

NM_005327.7

p.G34A

c.101G>C

1 paper

NM_005327.7

p.G34R

c.100G>C

3 papers

NM_005327.7

p.I33M

c.99C>G

1 paper

NM_005327.7

p.M38L

c.112A>C

1 paper

NM_005327.7

p.M38L

c.112A>T

1 paper

NM_005327.7

p.M38I

c.114G>A

1 paper

NM_005327.7

p.M38I

c.114G>C

1 paper

NM_005327.7

p.M38I

c.114G>T

2 papers

NM_005327.7

p.T31T

c.93G>A

1 paper

NM_005327.7

p.G39_G41delins

c.116_122delinsC

6 papers

NM_005327.7

p.A40T

c.118G>A