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.C106W

c.318T>G

Surrounding Variants

1 paper

NM_000016.6

p.C106*

c.318T>A

1 paper

NM_000016.6

p.I108_S109delFs

c.322_325del4

2 papers

NM_000016.6

p.C106Y

c.317G>A

11 papers

NM_000016.6

p.L107S

c.320T>C

1 paper

NM_000016.6

p.I108insFs

c.322dupA

1 paper

NM_000016.6

p.I108fs

c.322_323fs

2 papers

NM_000016.6

p.I108V

c.322A>G

1 paper

NM_000016.6

p.I108I

c.324T>C

1 paper

NM_000016.6

p.S109R

c.325A>C

3 papers

NM_000016.6

p.D104G

c.311A>G

1 paper

NM_000016.6

p.S109T

c.326G>C

3 papers

NM_000016.6

p.F103Y

c.308T>A