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.T102S

c.304A>T

Surrounding Variants

4 papers

NM_000016.6

p.G101E

c.302G>A

3 papers

NM_000016.6

p.T102_F103insFs

c.306_307insG

1 paper

NM_000016.6

p.G101R

c.301G>A

1 paper

NM_000016.6

p.G101R

c.301G>C

3 papers

NM_000016.6

p.F103Y

c.308T>A

1 paper

NM_000016.6

p.F103S

c.308T>C

3 papers

NM_000016.6

p.D104G

c.311A>G

1 paper

NM_000016.6

p.G99E

c.296G>A

1 paper

NM_000016.6

p.G99V

c.296G>T

1 paper

NM_000016.6

p.G99R

c.295G>A

1 paper

NM_000016.6

p.G99R

c.295G>C

2 papers

NM_000016.6

p.C106Y

c.317G>A