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.V392D

c.1175T>A

Surrounding Variants

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.A394T

c.1180G>A

1 paper

NM_001966.4

p.K389_K390insFs

c.1167_1168insC

1 paper

NM_001966.4

p.K389E

c.1165A>G

1 paper

NM_001966.4

p.S387R

c.1159A>C

1 paper

NM_001966.4

p.E384D

c.1152G>T

1 paper

NM_001966.4

p.E384D

c.1152G>C

1 paper

NM_001966.4

p.V382fs

c.1144_1145fs

1 paper

NM_001966.4

p.L406_C407insFs

c.1218_1219insA

1 paper

NM_001966.4

p.L377S

c.1130T>C

1 paper

NM_001966.4

p.E371_L372insFs

c.1113_1114insT