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.W116*

c.347G>A

Surrounding Variants

1 paper

NM_001243279.3

p.W116*

c.348G>A

1 paper

NM_001243279.3

p.A114A

c.342G>C

2 papers

NM_001243279.3

p.G119D

c.356G>A

1 paper

NM_001243279.3

p.G120insFs

c.359_360ins4

1 paper

NM_001243279.3

p.V123V

c.369C>A

1 paper

NM_001243279.3

p.D105D

c.315T>C

1 paper

NM_001243279.3

p.N104K

c.312C>A

1 paper

NM_001243279.3

p.N104K

c.312C>G

1 paper

NM_001243279.3

p.N104I

c.311A>T

1 paper

NM_001243279.3

p.L134P

c.401T>C

1 paper

NM_001243279.3

p.E135*

c.403G>T

1 paper

NM_001243279.3

p.R97W

c.289A>T