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

5 papers

NM_001243279.3

p.P243L

c.728C>T

Surrounding Variants

1 paper

NM_001243279.3

p.L244P

c.731T>C

1 paper

NM_001243279.3

p.V241M

c.721G>A

1 paper

NM_001243279.3

p.V247I

c.739G>A

1 paper

NM_001243279.3

p.D236E

c.708C>A

1 paper

NM_001243279.3

p.D236E

c.708C>G

2 papers

NM_001243279.3

p.D236N

c.706G>A

1 paper

NM_001243279.3

p.V251L

c.751G>C

2 papers

NM_001243279.3

p.A253V

c.758C>T

1 paper

NM_001243279.3

p.W232*

c.695G>A

4 papers

NM_001243279.3

p.W230*

c.690G>A

4 papers

NM_001243279.3

p.W230*

c.689G>A

2 papers

NM_001243279.3

p.L258_W259delFs

c.774_775delCT