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

2 papers

NM_000016.6

p.A333fs

c.997_998fs

Surrounding Variants

2 papers

NM_000016.6

p.A333P

c.997G>C

2 papers

NM_000016.6

p.A333_Y337insFs

c.999_1011dup13

1 paper

NM_000016.6

p.A333_Q338insFs

c.999_1012dup14

1 paper

NM_000016.6

p.A333fs

c.997_998fs

1 paper

NM_000016.6

p.R334_Y337del4

c.1000_1010del12

2 papers

NM_000016.6

p.L332L

c.994C>T

4 papers

NM_000016.6

p.R334K

c.1001G>A

2 papers

NM_000016.6

p.E331Q

c.991G>C

4 papers

NM_000016.6

p.S336R

c.1006A>C

1 paper

NM_000016.6

p.V330insFs

c.990dupT

3 papers

NM_000016.6

p.S336N

c.1007G>A

9 papers

NM_000016.6

p.S336R

c.1008T>A