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.W82*

c.245G>A

Surrounding Variants

2 papers

NM_000016.6

p.W82S

c.245G>C

3 papers

NM_000016.6

p.W82insFs

c.245_246insT

1 paper

NM_000016.6

p.W82L

c.245G>T

1 paper

NM_000016.6

p.W82_E83insFs

c.246_247insT

1 paper

NM_000016.6

p.W82fs

c.244_245fs

8 papers

NM_000016.6

p.W82fs

c.244_245fs

NM_001127328.3

p.W86fs

c.256_257fs

19 papers

NM_000016.6

p.W82insFs

c.244dupT

NM_001127328.3

p.W86insFs

c.244_245insT

1 paper

NM_000016.6

p.W82insFs

c.244_245dupTG

1 paper

NM_000016.6

p.R80S

c.240A>T

26 papers

NM_000016.6

p.L84F

c.250C>T

2 papers

NM_000016.6

p.R80G

c.238A>G

1 paper

NM_000016.6

p.G85insFs

c.254_255insGG