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.G118E

c.353G>A

Surrounding Variants

1 paper

NM_000016.6

p.V119insFs

c.355dupG

13 papers

NM_000016.6

p.T117T

c.351A>C

1 paper

NM_000016.6

p.V119delFs

c.355delG

1 paper

NM_000016.6

p.V119fs

c.355_356fs

1 paper

NM_000016.6

p.T117K

c.350C>A

2 papers

NM_000016.6

p.T117I

c.350C>T

NM_001127328.3

p.T121I

c.362C>T

3 papers

NM_000016.6

p.V119D

c.356T>A

1 paper

NM_000016.6

p.C116*

c.348T>A

21 papers

NM_000016.6

p.C116Y

c.347G>A

6 papers

NM_000016.6

p.C116G

c.346T>G

1 paper

NM_000016.6

p.C116delFs

c.346_347delTG

1 paper

NM_000016.6

p.C116_G118del3

c.346_353del9