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.R10P

c.29G>C

Surrounding Variants

1 paper

NM_005327.7

p.V12L

c.34G>C

1 paper

NM_005327.7

p.V12L

c.34G>T

1 paper

NM_005327.7

p.V12delFs

c.35delT

1 paper

NM_005327.7

p.Q7L

c.20A>T

1 paper

NM_005327.7

p.R6G

c.16A>G

1 paper

NM_005327.7

p.V4_F8insFs

c.12_22dup11

2 papers

NM_005327.7

p.T17T

c.51C>G

1 paper

NM_005327.7

p.A2V

c.5C>T

2 papers

NM_005327.7

p.A18A

c.54C>T

1 paper

NM_005327.7

p.M1I

c.3G>T

1 paper

NM_005327.7

p.M1R

c.2T>G

1 paper

NM_005327.7

p.M1L

c.1A>C