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.T150N

c.449C>A

Surrounding Variants

1 paper

NM_000016.6

p.T150I

c.449C>T

3 papers

NM_000016.6

p.T150fs

c.448_449fs

23 papers

NM_000016.6

p.T150fs

c.448_449fs

8 papers

NM_000016.6

p.M149I

c.447G>A

3 papers

NM_000016.6

p.M149I

c.447G>C

4 papers

NM_000016.6

p.M149I

c.447G>T

1 paper

NM_000016.6

p.M149insFs

c.446_447ins11

1 paper

NM_000016.6

p.M149L

c.445A>T

37 papers

NM_000016.6

p.T150_E151delFs

c.449_452del4

1 paper

NM_000016.6

p.R148_M149insFs

c.444_445ins4

1 paper

NM_000016.6

p.R148_M149Fs

c.444_445delinsGTTAATTCTCAATATTGTCTAAGAATTATGFs

1 paper

NM_000016.6

p.M149delFs

c.445_446delAT