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.V53G

c.158T>G

Surrounding Variants

1 paper

NM_005327.7

p.T52K

c.155C>A

1 paper

NM_005327.7

p.L55_V56delFs

c.165_168del4

1 paper

NM_005327.7

p.V56fs

c.166_167fs

1 paper

NM_005327.7

p.G50D

c.149G>A

1 paper

NM_005327.7

p.G50A

c.149G>C

4 papers

NM_005327.7

p.D57G

c.170A>G

5 papers

NM_005327.7

p.D57E

c.171C>A

2 papers

NM_005327.7

p.D57E

c.171C>G

1 paper

NM_005327.7

p.A46_H51del0

c.138_152del15

1 paper

NM_005327.7

p.D61Y

c.181G>T

1 paper

NM_005327.7

p.D61G

c.182A>G

1 paper

NM_005327.7

p.Q44_V45Splc

c.133-1G>A