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.S315S

c.945T>A

Surrounding Variants

1 paper

NM_001966.4

p.A317S

c.949G>T

1 paper

NM_001966.4

p.A317T

c.949G>A

1 paper

NM_001966.4

p.F316delFs

c.948delA

1 paper

NM_001966.4

p.G306_T307delFs

c.917_920del4

4 papers

NM_001966.4

p.G304Splc

c.911-2A>G

1 paper

NM_001966.4

p.D329N

c.985G>A

1 paper

NM_001966.4

p.L333P

c.998T>C

1 paper

NM_001966.4

p.A336T

c.1006G>A

1 paper

NM_001966.4

p.N337D

c.1009A>G

1 paper

NM_001966.4

p.L344M

c.1030T>A

1 paper

NM_001966.4

p.L344delFs

c.1031_1032delCA

1 paper

NM_001966.4

p.L344del1

c.1030_1031delCAA