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

2 papers

NM_000016.6

p.G85S

c.253G>A

Surrounding Variants

4 papers

NM_000016.6

p.G85R

c.253G>C

1 paper

NM_000016.6

p.G85_N88insFs

c.254_264dup11

9 papers

NM_000016.6

p.G85C

c.253G>T

1 paper

NM_000016.6

p.L86insFs

c.257dupT

1 paper

NM_000016.6

p.G85insFs

c.254_255insGG

26 papers

NM_000016.6

p.L84F

c.250C>T

1 paper

NM_000016.6

p.W82_E83insFs

c.246_247insT

3 papers

NM_000016.6

p.M87T

c.260T>C

1 paper

NM_000016.6

p.W82*

c.245G>A

1 paper

NM_000016.6

p.M87I

c.261G>A

2 papers

NM_000016.6

p.W82S

c.245G>C

1 paper

NM_000016.6

p.M87I

c.261G>C