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.R538Splc

c.1614-30G>A

Surrounding Variants

1 paper

NM_001243279.3

p.R538Splc

c.1614-2A>G

1 paper

NM_001243279.3

p.P543S

c.1627C>T

1 paper

NM_001243279.3

p.P543R

c.1628C>G

1 paper

NM_001243279.3

p.Y544C

c.1631A>G

27 papers

NM_001243279.3

p.R558W

c.1672C>T

2 papers

NM_001243279.3

p.R558Q

c.1673G>A

1 paper

NM_001243279.3

p.M561delFs

c.1682delT

3 papers

NM_001243279.3

p.F573delFs

c.1718delT

1 paper

NM_001243279.3

p.F573fs

c.1717_1718fs

1 paper

NM_001243279.3

p.H574insFs

c.1721dupA

1 paper

NM_001243279.3

p.P575delFs

c.1725delC

1 paper

NM_001243279.3

p.S576fs

c.1726_1727fs