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.G180A

c.539G>C

Surrounding Variants

1 paper

NM_000016.6

p.G180R

c.538G>A

1 paper

NM_000016.6

p.G180fs

c.538_539fs

1 paper

NM_000016.6

p.D181fs

c.541_542fs

4 papers

NM_000016.6

p.D181G

c.542A>G

1 paper

NM_000016.6

p.E182_Y183delFs

c.545_548del4

1 paper

NM_000016.6

p.K178insFs

c.533_534insT

2 papers

NM_000016.6

p.K178T

c.533A>C

1 paper

NM_000016.6

p.K178R

c.533A>G

1 paper

NM_000016.6

p.Y183_I184delFs

c.548_551del4

1 paper

NM_000016.6

p.K179_M190del0

c.536_568del33

1 paper

NM_000016.6

p.K179_G180insFs

c.535_538dup4

1 paper

NM_000016.6

p.E177K

c.529G>A