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.M1L

c.1A>C

Surrounding Variants

1 paper

NM_001966.4

p.M1L

c.1A>T

1 paper

NM_001966.4

p.M1V

c.1A>G

1 paper

NM_001966.4

p.M1R

c.2T>G

1 paper

NM_001966.4

p.M1T

c.2T>C

1 paper

NM_001966.4

p.M1I

c.3G>T

1 paper

NM_001966.4

p.A2V

c.5C>T

12 papers

NM_001966.4

p.E3K

c.7G>A

1 paper

NM_001966.4

p.Y4*

c.12T>A

1 paper

NM_001966.4

p.L7L

c.21G>T

1 paper

NM_001966.4

p.Y4_H8insFs

c.12_22dup11

1 paper

NM_001966.4

p.L13Q

c.38T>A

1 paper

NM_001966.4

p.I14F

c.40A>T