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.P169P

c.507G>C

Surrounding Variants

1 paper

NM_001243279.3

p.P169L

c.506C>T

1 paper

NM_001243279.3

p.I174M

c.522C>G

1 paper

NM_001243279.3

p.R161K

c.482G>A

2 papers

NM_001243279.3

p.P158L

c.473C>T

1 paper

NM_001243279.3

p.P182L

c.545C>T

1 paper

NM_001243279.3

p.V185_V187Fs

c.554_559delinsTGTGFs

1 paper

NM_001243279.3

p.P186L

c.557C>T

2 papers

NM_001243279.3

p.E151*

c.451G>T

1 paper

NM_001243279.3

p.V146I

c.436G>A

2 papers

NM_001243279.3

p.K195R

c.584A>G

1 paper

NM_001243279.3

p.A197T

c.589G>A

1 paper

NM_001243279.3

p.Q142*

c.424C>T