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.D416E

c.1248T>G

Surrounding Variants

1 paper

NM_001966.4

p.D416E

c.1248T>A

1 paper

NM_001966.4

p.E417K

c.1249G>A

1 paper

NM_001966.4

p.R424P

c.1271G>C

1 paper

NM_001966.4

p.L406_C407insFs

c.1218_1219insA

4 papers

NM_001966.4

p.P436S

c.1306C>T

3 papers

NM_001966.4

p.P436L

c.1307C>T

1 paper

NM_001966.4

p.P436Q

c.1307C>A

1 paper

NM_001966.4

p.A394T

c.1180G>A

1 paper

NM_001966.4

p.V392D

c.1175T>A

1 paper

NM_001966.4

p.V392I

c.1174G>A

1 paper

NM_001966.4

p.V382_Q391delFs

c.1145_1173del29

1 paper

NM_001966.4

p.L442F

c.1326G>T