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.S721G

c.2161A>G

Surrounding Variants

1 paper

NM_001966.4

p.S721N

c.2162G>A

1 paper

NM_001966.4

p.S718F

c.2153C>T

1 paper

NM_001966.4

p.L715S

c.2144T>C

1 paper

NM_001966.4

p.P707R

c.2120C>G

3 papers

NM_001166415.2

p.N610I

c.1829A>T

NM_001966.4

p.N706I

c.2117A>T

4 papers

NM_001966.4

p.S703F

c.2108C>T

1 paper

NM_001966.4

p.K700insFs

c.2099dupA

1 paper

NM_001966.4

p.L698V

c.2092C>G

1 paper

NM_001966.4

p.P694L

c.2081C>T

4 papers

NM_001966.4

p.Q685K

c.2053C>A

1 paper

NM_001966.4

p.R684G

c.2050A>G

1 paper

NM_001966.4

p.L672V

c.2014T>G