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.D168_V169insFs

c.504_505insC

Surrounding Variants

3 papers

NM_000016.6

p.D168A

c.503A>C

1 paper

NM_000016.6

p.D168V

c.503A>T

1 paper

NM_000016.6

p.S167C

c.500C>G

2 papers

NM_000016.6

p.A170S

c.508G>T

2 papers

NM_000016.6

p.S167P

c.499T>C

2 papers

NM_000016.6

p.G166G

c.498C>G

1 paper

NM_000016.6

p.G171S

c.511G>A

1 paper

NM_000016.6

p.G171V

c.512G>T

1 paper

NM_001127328.3

p.I176fs

c.526_527fs

1 paper

NM_001127328.3

p.I176_T178delFs

c.527_533del7

1 paper

NM_000016.6

p.I172T

c.515T>C

1 paper

NM_000016.6

p.P163P

c.489T>C