Varaico: Literature-Extracted Genetic Variants

ACADM

766 papers

RefSeq Summary

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation ...

Pfam Domains

Acyl-CoA_dh_Naa 42–109UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Naa 42–153UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 157–255UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 267–416UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase medium chain

HGNC Alias Symbols

MCAD; MCADH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000016.6

p.E384*

c.1150G>T

Surrounding Variants

1 paper

NM_000016.6

p.T383I

c.1148C>T

2 papers

NM_000016.6

p.Y385C

c.1154A>G

2 papers

NM_000016.6

p.N382H

c.1144A>C

1 paper

NM_000016.6

p.P386S

c.1156C>T

1 paper

NM_000016.6

p.V387I

c.1159G>A

1 paper

NM_000016.6

p.V387L

c.1159G>C

1 paper

NM_000016.6

p.V387L

c.1159G>T

1 paper

NM_000016.6

p.G380_F381insFs

c.1140_1141insG

14 papers

NM_000016.6

p.V387V

c.1161A>G

2 papers

NM_000016.6

p.E388K

c.1162G>A

3 papers

NM_000016.6

p.K389E

c.1165A>G

1 paper

NM_000016.6

p.K389T

c.1166A>C