Varaico: Literature-Extracted Genetic Variants

ACSF3

149 papers

RefSeq Summary

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded pro...

Pfam Domains

AMP-bindingaa 46–437UCSCAMP-binding enzyme

AMP-binding_Caa 488–563UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase family member 3

HGNC Alias Name

malonyl-CoA synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001243279.3

p.V459A

c.1376T>C

Surrounding Variants

1 paper

NM_001243279.3

p.D457N

c.1369G>A

2 papers

NM_001243279.3

p.K462T

c.1385A>C

1 paper

NM_001243279.3

p.R469*

c.1405C>T

3 papers

NM_001243279.3

p.R469Q

c.1406G>A

1 paper

NM_001243279.3

p.G470del1

c.1408_1409delGGC

9 papers

NM_001243279.3

p.R471W

c.1411C>T

4 papers

NM_001243279.3

p.R471Q

c.1412G>A

1 paper

NM_001243279.3

p.R471L

c.1412G>T

1 paper

NM_001243279.3

p.D475H

c.1423G>C

1 paper

NM_001243279.3

p.I477V

c.1429A>G

1 paper

NM_001243279.3

p.Y482_K483delFs

c.1446_1447delCA

2 papers

NM_001243279.3

p.Y482*

c.1446C>A