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.R196C

c.586C>T

Surrounding Variants

1 paper

NM_001966.4

p.R196L

c.587G>T

1 paper

NM_001966.4

p.E194K

c.580G>A

1 paper

NM_001966.4

p.L198I

c.592C>A

1 paper

NM_001966.4

p.L198fs

c.592_593fs

3 papers

NM_001966.4

p.L198_C199delFs

c.594_595delAG

1 paper

NM_001966.4

p.L198_C199delFs

c.592_595del4

1 paper

NM_001966.4

p.C199C

c.597C>T

1 paper

NM_001966.4

p.D190D

c.570T>C

3 papers

NM_001966.4

p.S205G

c.613A>G

1 paper

NM_001166415.2

p.P111H

c.332C>A

1 paper

NM_001966.4

p.S211N

c.632G>A

1 paper

NM_001966.4

p.I212V

c.634A>G