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

8 papers

NM_005327.7

p.M188V

c.562A>G

Surrounding Variants

2 papers

NM_005327.7

p.S190G

c.568A>G

1 paper

NM_005327.7

p.S190N

c.569G>A

1 paper

NM_005327.7

p.K185_P187Fs

c.554_559delinsTGTGFs

3 papers

NM_005327.7

p.I184F

c.550A>T

1 paper

NM_005327.7

p.T193ins1

c.578_579insTCA

1 paper

NM_005327.7

p.E182_V183Splc

c.547-1G>C

2 papers

NM_005327.7

p.S196delFs

c.587delC

1 paper

NM_005327.7

p.V198_D199delFs

c.592_595del4

3 papers

NM_005327.7

p.K206delFs

c.617delA

1 paper

NM_005327.7

p.K206fs

c.616_617fs

1 paper

NM_005327.7

p.H207P

c.620A>C

7 papers

NM_005327.7

p.V209I

c.625G>A