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

2 papers

NM_000016.6

p.G241S

c.721G>A

Surrounding Variants

3 papers

NM_000016.6

p.M240V

c.718A>G

1 paper

NM_000016.6

p.N239K

c.717C>G

1 paper

NM_000016.6

p.N239Y

c.715A>T

8 papers

NM_000016.6

p.R243*

c.727C>T

1 paper

NM_000016.6

p.L238F

c.714A>C

1 paper

NM_000016.6

p.L238F

c.714A>T

12 papers

NM_000016.6

p.R243Q

c.728G>A

2 papers

NM_000016.6

p.R243_C244insFs

c.729_730insTT

1 paper

NM_000016.6

p.L238insFs

c.713_714insGG

7 papers

NM_000016.6

p.C244R

c.730T>C

1 paper

NM_000016.6

p.C244_S245insT

c.730_734ins3

1 paper

NM_000016.6

p.C244Y

c.731G>A