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

1–12 of 776 variants

363 papers

NM_000016.6

p.K329E

c.985A>G

81 papers

NM_000016.6

p.Y67H

c.199T>C

44 papers

NM_000016.6

p.T121I

c.362C>T

44 papers

NM_000016.6

p.G267R

c.799G>A

37 papers

NM_000016.6

p.R53C

c.157C>T

37 papers

NM_000016.6

p.T150_E151delFs

c.449_452del4

35 papers

NM_000016.6

p.E43K

c.127G>A

28 papers

NM_000016.6

p.G267R

c.799G>C

26 papers

NM_000016.6

p.L84F

c.250C>T

25 papers

NM_000016.6

p.S245L

c.734C>T

24 papers

NM_000016.6

p.G195R

c.583G>A

23 papers

NM_000016.6

p.I78T

c.233T>C