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.E72_Y73Splc

c.216+2T>C

Surrounding Variants

1 paper

NM_000016.6

p.E72_Y73Splc

c.216+3A>G

1 paper

NM_000016.6

p.E72_Y73Splc

c.216+1G>A

1 paper

NM_000016.6

p.E72_Y73Splc

c.216+1G>T

2 papers

NM_000016.6

p.E72_Y73Splc

c.216+5G>A

2 papers

NM_000016.6

p.E72_Y73Splc

c.216+5G>T

1 paper

NM_000016.6

p.G71D

c.212G>A

6 papers

NM_000016.6

p.E72_Y73Splc

c.216+10T>C

1 paper

NM_000016.6

p.T70del1

c.208_210delACT

2 papers

NM_000016.6

p.K69R

c.206A>G

1 paper

NM_000016.6

p.D68_T70Fs

c.204_210delinsTCCFs

1 paper

NM_000016.6

p.D68fs

c.202_203fs

2 papers

NM_000016.6

p.D68delFs

c.203delA