Varaico: Literature-Extracted Genetic Variants

ACADS

408 papers

RefSeq Summary

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation...

Pfam Domains

Acyl-CoA_dh_Naa 35–147UCSCAcyl-CoA dehydrogenase, N-terminal domain

Acyl-CoA_dh_Maa 151–246UCSCAcyl-CoA dehydrogenase, middle domain

Acyl-CoA_dh_1aa 258–407UCSCAcyl-CoA dehydrogenase, C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA dehydrogenase short chain

HGNC Alias Symbols

SCAD; ACAD3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000017.4

p.A331P

c.991G>C

Surrounding Variants

6 papers

NM_000017.4

p.A331T

c.991G>A

7 papers

NM_000017.4

p.R330R

c.990C>T

13 papers

NM_000017.4

p.R330H

c.989G>A

1 paper

NM_000017.4

p.R330delins

c.989_990delinsAT

3 papers

NM_000017.4

p.R330S

c.988C>A

13 papers

NM_000017.4

p.R330C

c.988C>T

2 papers

NM_000017.4

p.A332V

c.995C>T

1 paper

NM_000017.4

p.W329C

c.987G>T

5 papers

NM_000017.4

p.L334L

c.1000C>T

1 paper

NM_000017.4

p.T328del1

c.982_983delACC

2 papers

NM_000017.4

p.L334P

c.1001T>C

4 papers

NM_000017.4

p.L327_T328delins

c.980_983delinsT