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

35 papers

NM_001966.4

p.E510Q

c.1528G>C

Surrounding Variants

1 paper

NM_001966.4

p.E510K

c.1528G>A

1 paper

NM_001966.4

p.G513S

c.1537G>A

1 paper

NM_001966.4

p.P502R

c.1505C>G

1 paper

NM_001966.4

p.Y493fs

c.1477_1478fs

1 paper

NM_001966.4

p.G526E

c.1577G>A

1 paper

NM_001966.4

p.Y493insFs

c.1477dupT

1 paper

NM_001966.4

p.Q491delFs

c.1471delG

1 paper

NM_001966.4

p.G536R

c.1606G>A

2 papers

NM_001966.4

p.R483Q

c.1448G>A

1 paper

NM_001966.4

p.G481E

c.1442G>A

1 paper

NM_001966.4

p.L545F

c.1633C>T

1 paper

NM_001966.4

p.R551*

c.1651C>T