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

5 papers

NM_000016.6

p.P92L

c.275C>T

Surrounding Variants

1 paper

NM_000016.6

p.E93_N94delFs

c.279_280delGA

1 paper

NM_000016.6

p.P92A

c.274C>G

1 paper

NM_000016.6

p.P92S

c.274C>T

1 paper

NM_000016.6

p.I91T

c.272T>C

1 paper

NM_000016.6

p.I91F

c.271A>T

1 paper

NM_000016.6

p.E93D

c.279G>C

1 paper

NM_000016.6

p.E93D

c.279G>T

1 paper

NM_000016.6

p.H90H

c.270C>T

1 paper

NM_000016.6

p.G96R

c.286G>A

1 paper

NM_000016.6

p.G96R

c.286G>C

1 paper

NM_000016.6

p.G96Splc

c.286+1G>A

2 papers

NM_000016.6

p.G96A

c.287G>C