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

2 papers

NM_001966.4

p.N629S

c.1886A>G

Surrounding Variants

1 paper

NM_001966.4

p.S626L

c.1877C>T

1 paper

NM_001966.4

p.Y625*

c.1875T>G

1 paper

NM_001966.4

p.Y625*

c.1875T>A

1 paper

NM_001966.4

p.Q616R

c.1847A>G

1 paper

NM_001966.4

p.I646T

c.1937T>C

1 paper

NM_001966.4

p.I646M

c.1938T>G

1 paper

NM_001966.4

p.P611R

c.1832C>G

1 paper

NM_001966.4

p.W656*

c.1967G>A

1 paper

NM_001966.4

p.W656*

c.1968G>A

1 paper

NM_001966.4

p.R602G

c.1804C>G

2 papers

NM_001966.4

p.P594_W595del2

c.1780_1784del6

1 paper

NM_001966.4

p.P592_W595del4

c.1774_1784del12