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

23 papers

NM_001243279.3

p.E359K

c.1075G>A

Surrounding Variants

6 papers

NM_001243279.3

p.T358I

c.1073C>T

3 papers

NM_001243279.3

p.G361S

c.1081G>A

3 papers

NM_001243279.3

p.M362L

c.1084A>C

3 papers

NM_001243279.3

p.M362L

c.1084A>T

1 paper

NM_001243279.3

p.G356S

c.1066G>A

1 paper

NM_001243279.3

p.R354Q

c.1061G>A

1 paper

NM_001243279.3

p.R354W

c.1060C>T

1 paper

NM_001243279.3

p.L351P

c.1052T>C

1 paper

NM_001243279.3

p.P367R

c.1100C>G

1 paper

NM_001243279.3

p.T370I

c.1109C>T

4 papers

NM_001243279.3

p.V372M

c.1114G>A

1 paper

NM_001243279.3

p.S332L

c.995C>T