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.V121V

c.363G>T

Surrounding Variants

1 paper

NM_005327.7

p.V121G

c.362T>G

3 papers

NM_005327.7

p.V121M

c.361G>A

1 paper

NM_005327.7

p.L124delFs

c.371delT

2 papers

NM_005327.7

p.K125insFs

c.374_375ins4

1 paper

NM_005327.7

p.K127I

c.380A>T

1 paper

NM_005327.7

p.N128N

c.384C>T

1 paper

NM_005327.7

p.E129A

c.386A>C

1 paper

NM_005327.7

p.E129D

c.387G>T

2 papers

NM_005327.7

p.T113I

c.338C>T

1 paper

NM_005327.7

p.L130F

c.388C>T

1 paper

NM_005327.7

p.S112N

c.335G>A

1 paper

NM_005327.7

p.R133G

c.397A>G