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.G129G

c.387G>A

Surrounding Variants

1 paper

NM_000016.6

p.G129G

c.387G>C

6 papers

NM_000016.6

p.G129_Q130Splc

c.387+1G>A

1 paper

NM_000016.6

p.G129_Q130Splc

c.387+1G>T

4 papers

NM_000016.6

p.G129R

c.385G>A

4 papers

NM_000016.6

p.G129R

c.385G>C

1 paper

NM_000016.6

p.G129W

c.385G>T

1 paper

NM_000016.6

p.G129_Q130Splc

c.387+4A>C

2 papers

NM_000016.6

p.L128S

c.383T>C

4 papers

NM_000016.6

p.G129delFs

c.387delG

2 papers

NM_000016.6

p.L128M

c.382T>A

1 paper

NM_000016.6

p.L128fs

c.382_383fs

1 paper

NM_000016.6

p.L128fs

c.382_383fs