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.I100L

c.298A>T

Surrounding Variants

1 paper

NM_005327.7

p.T102delFs

c.304_305delAC

1 paper

NM_005327.7

p.T96delins

c.287_288delinsTG

2 papers

NM_005327.7

p.K95fs

c.283_284fs

2 papers

NM_005327.7

p.K95_S98Fs

c.283_293delinsTFs

5 papers

NM_005327.7

p.F92C

c.275T>G

1 paper

NM_005327.7

p.D90G

c.269A>G

1 paper

NM_005327.7

p.A88V

c.263C>T

1 paper

NM_005327.7

p.A88S

c.262G>T

1 paper

NM_005327.7

p.S112N

c.335G>A

2 papers

NM_005327.7

p.T113I

c.338C>T

3 papers

NM_005327.7

p.V121M

c.361G>A

1 paper

NM_005327.7

p.V121G

c.362T>G