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.D345Y

c.1033G>T

Surrounding Variants

1 paper

NM_000016.6

p.S346_G347del2

c.1036_1040del6

1 paper

NM_000016.6

p.V344D

c.1031T>A

1 paper

NM_000016.6

p.S346_G347del1

c.1038_1040delTGG

1 paper

NM_000016.6

p.V344_G347del4

c.1030_1040del12

1 paper

NM_000016.6

p.E343G

c.1028A>G

5 papers

NM_000016.6

p.G347V

c.1040G>T

1 paper

NM_000016.6

p.R348G

c.1042C>G

3 papers

NM_000016.6

p.R348C

c.1042C>T

1 paper

NM_000016.6

p.W342R

c.1024T>A

1 paper

NM_000016.6

p.W342R

c.1024T>C

1 paper

NM_000016.6

p.A341V

c.1022C>T

10 papers

NM_000016.6

p.R349*

c.1045C>T