Varaico: Literature-Extracted Genetic Variants

EHHADH

426 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydr...

Pfam Domains

ECH_1aa 6–209UCSCEnoyl-CoA hydratase/isomerase

3HCDH_Naa 299–476UCSC3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

3HCDHaa 478–582UCSC3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase

HGNC Previous Symbol

ECHD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001966.4

p.Q238*

c.712C>T

Surrounding Variants

1 paper

NM_001966.4

p.A239V

c.716C>T

1 paper

NM_001166415.2

p.R139H

c.416G>A

1 paper

NM_001966.4

p.R235C

c.703C>T

1 paper

NM_001966.4

p.V241A

c.722T>C

1 paper

NM_001966.4

p.Y245_E246insT

c.733_737ins3

1 paper

NM_001966.4

p.K250M

c.749A>T

1 paper

NM_001966.4

p.K219R

c.656A>G

1 paper

NM_001966.4

p.E215A

c.644A>C

1 paper

NM_001966.4

p.E215delFs

c.643delC

1 paper

NM_001966.4

p.S214N

c.641G>A

1 paper

NM_001966.4

p.I212V

c.634A>G

1 paper

NM_001966.4

p.S211N

c.632G>A