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.I28F

c.82A>T

Surrounding Variants

3 papers

NM_000017.4

p.T27P

c.79A>C

1 paper

NM_000017.4

p.T27delFs

c.81delC

1 paper

NM_000017.4

p.H26R

c.77A>G

1 paper

NM_000017.4

p.Q24R

c.71A>G

4 papers

NM_000017.4

p.R23P

c.68G>C

1 paper

NM_000017.4

p.R23W

c.67C>T

2 papers

NM_000017.4

p.W22*

c.66G>A

2 papers

NM_000017.4

p.W22*

c.65G>A

2 papers

NM_000017.4

p.W22L

c.65G>T

1 paper

NM_000017.4

p.P35L

c.104C>T

2 papers

NM_000017.4

p.H38L

c.113A>T

3 papers

NM_000017.4

p.L17L

c.51C>G