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.A361V

c.1082C>T

Surrounding Variants

22 papers

NM_000016.6

p.G362E

c.1085G>A

2 papers

NM_001127328.3

p.F364S

c.1091T>C

NM_000016.6

p.F360S

c.1079T>C

1 paper

NM_000016.6

p.D363N

c.1087G>A

4 papers

NM_000016.6

p.D363G

c.1088A>G

2 papers

NM_000016.6

p.A359V

c.1076C>T

1 paper

NM_000016.6

p.A359T

c.1075G>A

1 paper

NM_000016.6

p.I364insFs

c.1090dupA

1 paper

NM_000016.6

p.I364delFs

c.1091delT

3 papers

NM_000016.6

p.K358M

c.1073A>T

4 papers

NM_000016.6

p.I364T

c.1091T>C

1 paper

NM_000016.6

p.I364_A365del1

c.1092_1094delTGC

1 paper

NM_000016.6

p.K358fs

c.1072_1073fs