Varaico: Literature-Extracted Genetic Variants

ACSS2

149 papers

RefSeq Summary

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a ...

Pfam Domains

ACAS_Naa 47–107UCSCAcetyl-coenzyme A synthetase N-terminus

AMP-bindingaa 108–530UCSCAMP-binding enzyme

AMP-binding_Caa 583–661UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

acyl-CoA synthetase short chain family member 2

HGNC Previous Symbol

ACAS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018677.4

p.V337L

c.1009G>C

Surrounding Variants

1 paper

NM_018677.4

p.V337L

c.1009G>T

1 paper

NM_018677.4

p.K342Q

c.1024A>C

1 paper

NM_018677.4

p.V344A

c.1031T>C

1 paper

NM_018677.4

p.D358A

c.1073A>C

1 paper

NM_018677.4

p.T363A

c.1087A>G

1 paper

NM_018677.4

p.S366F

c.1097C>T

1 paper

NM_018677.4

p.W395C

c.1185G>C

1 paper

NM_018677.4

p.W395C

c.1185G>T

1 paper

NM_018677.4

p.V462M

c.1384G>A

1 paper

NM_018677.4

p.T468A

c.1402A>G

1 paper

NM_018677.4

p.E469A

c.1406A>C

1 paper

NM_018677.4

p.A481T

c.1441G>A