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.V251L

c.751G>C

Surrounding Variants

1 paper

NM_000016.6

p.I250F

c.748A>T

1 paper

NM_000016.6

p.F252C

c.755T>G

5 papers

NM_000016.6

p.E253K

c.757G>A

3 papers

NM_000016.6

p.G249R

c.745G>A

2 papers

NM_000016.6

p.G249R

c.745G>C

1 paper

NM_000016.6

p.G249*

c.745G>T

1 paper

NM_001127328.3

p.E257G

c.770A>G

8 papers

NM_000016.6

p.R248G

c.742A>G

1 paper

NM_000016.6

p.D254N

c.760G>A

1 paper

NM_000016.6

p.D254_V255insGG

c.760_764ins6

2 papers

NM_000016.6

p.T247A

c.739A>G

1 paper

NM_000016.6

p.V255V

c.765G>T