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.K189delFs

c.567delG

Surrounding Variants

2 papers

NM_000016.6

p.Q188R

c.563A>G

1 paper

NM_000016.6

p.M190R

c.569T>G

3 papers

NM_000016.6

p.W191*

c.572G>A

3 papers

NM_000016.6

p.W191*

c.573G>A

5 papers

NM_000016.6

p.N186K

c.558T>A

4 papers

NM_000016.6

p.N186K

c.558T>G

1 paper

NM_000016.6

p.T193delFs

c.577delA

9 papers

NM_000016.6

p.T193A

c.577A>G

1 paper

NM_000016.6

p.I185M

c.555T>G

1 paper

NM_000016.6

p.I185_G187Fs

c.554_559delinsTGTGFs

3 papers

NM_000016.6

p.I185T

c.554T>C

3 papers

NM_000016.6

p.I185_G196del0

c.554_586del33