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

2 papers

NM_001243279.3

p.S485R

c.1455C>G

Surrounding Variants

2 papers

NM_001243279.3

p.S485R

c.1455C>A

1 paper

NM_001243279.3

p.S485S

c.1455C>T

3 papers

NM_001243279.3

p.A486T

c.1456G>A

2 papers

NM_001243279.3

p.S485R

c.1453A>C

1 paper

NM_001243279.3

p.L487L

c.1459C>T

1 paper

NM_001243279.3

p.K483E

c.1447A>G

2 papers

NM_001243279.3

p.Y482*

c.1446C>A

2 papers

NM_001243279.3

p.Y482*

c.1446C>G

1 paper

NM_001243279.3

p.Y482_K483delFs

c.1446_1447delCA

7 papers

NM_001243279.3

p.E490D

c.1470G>C

7 papers

NM_001243279.3

p.E490D

c.1470G>T

1 paper

NM_001243279.3

p.W491*

c.1472G>A