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.Y114*

c.342T>G

Surrounding Variants

2 papers

NM_000016.6

p.Y114C

c.341A>G

1 paper

NM_000016.6

p.G115V

c.344G>T

1 paper

NM_000016.6

p.G115_C116delFs

c.344_347del4

1 paper

NM_000016.6

p.C116delFs

c.346_347delTG

1 paper

NM_000016.6

p.C116_G118del3

c.346_353del9

2 papers

NM_000016.6

p.A113D

c.338C>A

6 papers

NM_000016.6

p.A113V

c.338C>T

6 papers

NM_000016.6

p.C116G

c.346T>G

21 papers

NM_000016.6

p.C116Y

c.347G>A

1 paper

NM_000016.6

p.A113T

c.337G>A

1 paper

NM_000016.6

p.A113P

c.337G>C

2 papers

NM_000016.6

p.A113fs

c.337_338fs