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

1 paper

NM_000016.6

p.D278G

c.833A>G

Surrounding Variants

1 paper

NM_000016.6

p.T280insFs

c.838dupA

1 paper

NM_000016.6

p.K279_T280del2

c.835_839del6

1 paper

NM_000016.6

p.T280A

c.838A>G

1 paper

NM_000016.6

p.A276T

c.826G>A

5 papers

NM_000016.6

p.R281T

c.842G>C

8 papers

NM_000016.6

p.R281S

c.843A>C

13 papers

NM_000016.6

p.R281S

c.843A>T

1 paper

NM_000016.6

p.G275*

c.823G>T

2 papers

NM_000016.6

p.P282S

c.844C>T

1 paper

NM_000016.6

p.P282L

c.845C>T

1 paper

NM_000016.6

p.M274L

c.820A>C

4 papers

NM_000016.6

p.M274V

c.820A>G