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.A15T

c.43G>A

Surrounding Variants

1 paper

NM_001243279.3

p.A15delFs

c.45delC

3 papers

NM_001243279.3

p.A17P

c.49G>C

1 paper

NM_001243279.3

p.A17A

c.51G>C

1 paper

NM_001243279.3

p.R11C

c.31C>T

1 paper

NM_001243279.3

p.R10Q

c.29G>A

8 papers

NM_001243279.3

p.R10W

c.28C>T

1 paper

NM_001243279.3

p.R20Q

c.59G>A

1 paper

NM_001243279.3

p.P23L

c.68C>T

4 papers

NM_001243279.3

p.L2P

c.5T>C

1 paper

NM_001243279.3

p.L2Fs

c.5delinsCCGCCGCCGTGGGTCTCTGCCTGFs

1 paper

NM_001243279.3

p.L2delins

c.5delinsCCGCCGCCGT

1 paper

NM_001243279.3

p.L2Fs

c.5delinsCCGCCGCCGTGGGTCTCTFs