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.G377A

c.1130G>C

Surrounding Variants

1 paper

NM_000016.6

p.G377V

c.1130G>T

2 papers

NM_000016.6

p.G377R

c.1129G>A

1 paper

NM_000016.6

p.G378R

c.1132G>C

1 paper

NM_000016.6

p.G378G

c.1134C>T

1 paper

NM_000016.6

p.I375M

c.1125A>G

9 papers

NM_000016.6

p.I375T

c.1124T>C

1 paper

NM_000016.6

p.I375R

c.1124T>G

1 paper

NM_000016.6

p.Q374P

c.1121A>C

1 paper

NM_000016.6

p.Q374R

c.1121A>G

1 paper

NM_000016.6

p.G380_F381insFs

c.1140_1141insG

1 paper

NM_000016.6

p.Q374*

c.1120C>T

1 paper

NM_000016.6

p.V373A

c.1118T>C