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.T247A

c.739A>G

Surrounding Variants

8 papers

NM_000016.6

p.R248G

c.742A>G

1 paper

NM_000016.6

p.D246delFs

c.737delA

25 papers

NM_000016.6

p.S245L

c.734C>T

3 papers

NM_000016.6

p.G249R

c.745G>A

2 papers

NM_000016.6

p.G249R

c.745G>C

1 paper

NM_000016.6

p.G249*

c.745G>T

1 paper

NM_000016.6

p.C244Y

c.731G>A

1 paper

NM_000016.6

p.C244_S245ins1

c.732_733insGAT

1 paper

NM_000016.6

p.I250F

c.748A>T

7 papers

NM_000016.6

p.C244R

c.730T>C

1 paper

NM_000016.6

p.C244_S245insT

c.730_734ins3

2 papers

NM_000016.6

p.R243_C244insFs

c.729_730insTT