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.R79I

c.236G>T

Surrounding Variants

1 paper

NM_000016.6

p.R79G

c.235A>G

1 paper

NM_000016.6

p.R79S

c.237A>T

2 papers

NM_000016.6

p.R80G

c.238A>G

1 paper

NM_000016.6

p.I78I

c.234T>C

2 papers

NM_000016.6

p.I78M

c.234T>G

23 papers

NM_000016.6

p.I78T

c.233T>C

1 paper

NM_000016.6

p.I78S

c.233T>G

1 paper

NM_000016.6

p.R80S

c.240A>T

1 paper

NM_000016.6

p.I78fs

c.232_233fs

1 paper

NM_000016.6

p.L77Q

c.230T>A

1 paper

NM_000016.6

p.I78insFs

c.232dupA

19 papers

NM_000016.6

p.W82insFs

c.244dupT

NM_001127328.3

p.W86insFs

c.244_245insT