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

1–12 of 214 variants

35 papers

NM_001966.4

p.E510Q

c.1528G>C

12 papers

NM_001966.4

p.E3K

c.7G>A

4 papers

NM_001966.4

p.G304Splc

c.911-2A>G

4 papers

NM_001966.4

p.P436S

c.1306C>T

4 papers

NM_001966.4

p.Q685K

c.2053C>A

4 papers

NM_001966.4

p.S703F

c.2108C>T

3 papers

NM_001966.4

p.V178I

c.532G>A

3 papers

NM_001966.4

p.L198_C199delFs

c.594_595delAG

3 papers

NM_001966.4

p.S205G

c.613A>G

3 papers

NM_001966.4

p.P436L

c.1307C>T

2 papers

NM_001966.4

p.L16del1

c.46_47delGAG

2 papers

NM_001966.4

p.A116A

c.348A>T