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.F55delFs

c.165delT

Surrounding Variants

1 paper

NM_000016.6

p.F55_A56delFs

c.163_167del5

1 paper

NM_000016.6

p.F55L

c.163T>C

1 paper

NM_000016.6

p.F55insFs

c.164_165insCT

1 paper

NM_000016.6

p.F55L

c.165T>A

2 papers

NM_000016.6

p.F55L

c.165T>G

13 papers

NM_000016.6

p.R53H

c.158G>A

4 papers

NM_001127328.3

p.A60P

c.178G>C

NM_000016.6

p.A56P

c.166G>C

2 papers

NM_000016.6

p.A56delFs

c.168delC

1 paper

NM_000016.6

p.R53S

c.157C>A

37 papers

NM_000016.6

p.R53C

c.157C>T

1 paper

NM_000016.6

p.R53delins

c.157_159delinsGAG

1 paper

NM_000016.6

p.R57fs

c.169_170fs