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

1–12 of 177 variants

27 papers

NM_001243279.3

p.R558W

c.1672C>T

23 papers

NM_001243279.3

p.E359K

c.1075G>A

9 papers

NM_001243279.3

p.R471W

c.1411C>T

8 papers

NM_001243279.3

p.R10W

c.28C>T

7 papers

NM_001243279.3

p.E490D

c.1470G>C

7 papers

NM_001243279.3

p.E490D

c.1470G>T

6 papers

NM_001243279.3

p.T358I

c.1073C>T

5 papers

NM_001243279.3

p.P243L

c.728C>T

5 papers

NM_001243279.3

p.P285L

c.854C>T

4 papers

NM_001243279.3

p.L2P

c.5T>C

4 papers

NM_001243279.3

p.M198R

c.593T>G

4 papers

NM_001243279.3

p.W230*

c.689G>A