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

9 papers

NM_000016.6

p.S336R

c.1008T>A

Surrounding Variants

4 papers

NM_000016.6

p.S336R

c.1008T>G

3 papers

NM_000016.6

p.S336N

c.1007G>A

7 papers

NM_000016.6

p.Y337S

c.1010A>C

4 papers

NM_000016.6

p.S336R

c.1006A>C

2 papers

NM_000016.6

p.Q338insFs

c.1012_1013ins13

1 paper

NM_000016.6

p.Q338_A341del4

c.1012_1022del12

2 papers

NM_000016.6

p.Q338*

c.1012C>T

1 paper

NM_000016.6

p.Q338fs

c.1012_1013fs

4 papers

NM_000016.6

p.R334K

c.1001G>A

1 paper

NM_000016.6

p.R334_Y337del4

c.1000_1010del12

1 paper

NM_000016.6

p.A340V

c.1019C>T

2 papers

NM_000016.6

p.A333P

c.997G>C