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.L263V

c.787T>G

Surrounding Variants

1 paper

NM_000016.6

p.L263F

c.789A>C

1 paper

NM_000016.6

p.L263L

c.789A>G

1 paper

NM_000016.6

p.I264V

c.790A>G

1 paper

NM_000016.6

p.I264delFs

c.792delT

1 paper

NM_000016.6

p.I264fs

c.790_791fs

1 paper

NM_000016.6

p.G265_A268Fs

c.794_803delinsTTTAAFs

1 paper

NM_000016.6

p.G265_A268Fs

c.794_803delinsTTTAAAFs

1 paper

NM_000016.6

p.E260G

c.779A>G

1 paper

NM_000016.6

p.E260K

c.778G>A

1 paper

NM_000016.6

p.N261delFs

c.782delA

1 paper

NM_000016.6

p.E260fs

c.778_779fs

1 paper

NM_000016.6

p.K259_E260insFs

c.777_778insT