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.M326I

c.978G>A

Surrounding Variants

1 paper

NM_000016.6

p.M326I

c.978G>C

1 paper

NM_000016.6

p.M326I

c.978G>T

9 papers

NM_000016.6

p.M326T

c.977T>C

5 papers

NM_000016.6

p.M328V

c.982A>G

1 paper

NM_000016.6

p.M328fs

c.982_983fs

3 papers

NM_000016.6

p.M328delFs

c.984delG

6 papers

NM_000016.6

p.K329Q

c.985A>C

364 papers

NM_000016.6

p.K329E

c.985A>G

NM_001127328.3

p.K333E

c.997A>G

1 paper

NM_000016.6

p.A324T

c.970G>A

5 papers

NM_000016.6

p.A324P

c.970G>C

3 papers

NM_000016.6

p.A324delins

c.970_971delinsAT

1 paper

NM_000016.6

p.L323L

c.969G>A