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.Y397H

c.1189T>C

Surrounding Variants

7 papers

NM_000016.6

p.Y397N

c.1189T>A

1 paper

NM_000016.6

p.Y397fs

c.1189_1190fs

1 paper

NM_000016.6

p.Y397fs

c.1189_1190fs

3 papers

NM_000016.6

p.Y397delFs

c.1191delT

4 papers

NM_000016.6

p.Y397insFs

c.1189_1190insT

1 paper

NM_000016.6

p.Q398fs

c.1192_1193fs

1 paper

NM_000016.6

p.K395T

c.1184A>C

1 paper

NM_000016.6

p.K395R

c.1184A>G

1 paper

NM_000016.6

p.Q398Q

c.1194G>A

1 paper

NM_000016.6

p.K395delins

c.1183_1185delinsTAT

3 papers

NM_000016.6

p.Q398_I399Splc

c.1194+1G>A

1 paper

NM_000016.6

p.Q398_I399Splc

c.1194+2T>C