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.A273T

c.817G>A

Surrounding Variants

1 paper

NM_000016.6

p.A273fs

c.817_818fs

1 paper

NM_000016.6

p.A273fs

c.817_818fs

1 paper

NM_000016.6

p.A273delFs

c.817delG

1 paper

NM_000016.6

p.M274delFs

c.820_821delAT

1 paper

NM_000016.6

p.M274L

c.820A>C

4 papers

NM_000016.6

p.M274V

c.820A>G

2 papers

NM_000016.6

p.A273_F277delFs

c.817_829del13

2 papers

NM_000016.6

p.K271E

c.811A>G

1 paper

NM_000016.6

p.G275*

c.823G>T

1 paper

NM_000016.6

p.A276T

c.826G>A

1 paper

NM_000016.6

p.F270insFs

c.808_809insC

1 paper

NM_000016.6

p.D278G

c.833A>G