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

9 papers

NM_000016.6

p.T193A

c.577A>G

Surrounding Variants

1 paper

NM_000016.6

p.T193delFs

c.577delA

9 papers

NM_000016.6

p.N194D

c.580A>G

2 papers

NM_000016.6

p.N194S

c.581A>G

3 papers

NM_000016.6

p.W191*

c.573G>A

1 paper

NM_000016.6

p.N194K

c.582C>A

1 paper

NM_000016.6

p.N194K

c.582C>G

3 papers

NM_000016.6

p.W191*

c.572G>A

24 papers

NM_000016.6

p.G195R

c.583G>A

7 papers

NM_000016.6

p.G195R

c.583G>C

1 paper

NM_000016.6

p.M190R

c.569T>G

1 paper

NM_000016.6

p.G196R

c.586G>A

1 paper

NM_000016.6

p.G196R

c.586G>C