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.I123N

c.368T>A

Surrounding Variants

1 paper

NM_000016.6

p.A122S

c.364G>T

1 paper

NM_000016.6

p.T121T

c.363T>C

1 paper

NM_000016.6

p.T121T

c.363T>G

44 papers

NM_000016.6

p.T121I

c.362C>T

1 paper

NM_000016.6

p.N126Y

c.376A>T

3 papers

NM_000016.6

p.V119D

c.356T>A

1 paper

NM_000016.6

p.V119fs

c.355_356fs

2 papers

NM_000016.6

p.L128M

c.382T>A

1 paper

NM_000016.6

p.L128fs

c.382_383fs

1 paper

NM_000016.6

p.L128fs

c.382_383fs

1 paper

NM_000016.6

p.G118E

c.353G>A

2 papers

NM_000016.6

p.L128S

c.383T>C