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.G100delFs

c.298delC

Surrounding Variants

1 paper

NM_001966.4

p.G102delFs

c.304_305delCC

1 paper

NM_001966.4

p.A98S

c.292G>T

1 paper

NM_001166415.2

p.M1T

c.2T>C

1 paper

NM_001966.4

p.G96Fs

c.288delinsTGFs

1 paper

NM_001966.4

p.A106V

c.317C>T

1 paper

NM_001966.4

p.L107L

c.319C>T

1 paper

NM_001966.4

p.L107P

c.320T>C

1 paper

NM_001966.4

p.A92V

c.275C>T

1 paper

NM_001966.4

p.P89S

c.265C>T

1 paper

NM_001966.4

p.A114S

c.340G>T

1 paper

NM_001966.4

p.H115delFs

c.344delT

1 paper

NM_001966.4

p.A116V

c.347C>T