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

35 papers

NM_000016.6

p.E43K

c.127G>A

Surrounding Variants

1 paper

NM_000016.6

p.T42I

c.125C>T

1 paper

NM_000016.6

p.Q44R

c.131A>G

13 papers

NM_000016.6

p.Q45R

c.134A>G

1 paper

NM_000016.6

p.Q45H

c.135G>T

1 paper

NM_000016.6

p.K46N

c.138A>T

1 paper

NM_001127328.3

p.E51_A54del0

c.151_162del12

1 paper

NM_000016.6

p.E47V

c.140A>T

2 papers

NM_000016.6

p.F48L

c.142T>C

2 papers

NM_000016.6

p.F48S

c.143T>C

1 paper

NM_000016.6

p.F48C

c.143T>G

6 papers

NM_000016.6

p.Q49E

c.145C>G

1 paper

NM_000016.6

p.E40Splc

c.119-12A>G