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.M96V

c.286A>G

Surrounding Variants

1 paper

NM_018677.4

p.T100I

c.299C>T

1 paper

NM_018677.4

p.F84Y

c.251T>A

1 paper

NM_018677.4

p.R110Q

c.329G>A

1 paper

NM_018677.4

p.K72K

c.216G>A

1 paper

NM_018677.4

p.D119E

c.357T>A

1 paper

NM_018677.4

p.D119E

c.357T>G

1 paper

NM_018677.4

p.V121V

c.363T>A

1 paper

NM_018677.4

p.R52R

c.156G>C

1 paper

NM_018677.4

p.P32insFs

c.94_95ins4

1 paper

NM_018677.4

p.R25R

c.75G>A

1 paper

NM_018677.4

p.G21G

c.63A>T

1 paper

NM_018677.4

p.E18K

c.52G>A