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

1–12 of 92 variants

3 papers

NM_018677.4

p.A181V

c.542C>T

3 papers

NM_018677.4

p.V496A

c.1487T>C

2 papers

NM_018677.4

p.P171S

c.511C>T

2 papers

NM_018677.4

p.A597V

c.1790C>T

2 papers

NM_018677.4

p.L617L

c.1849T>C

2 papers

NM_018677.4

p.R658H

c.1973G>A

1 paper

NM_018677.4

p.V8A

c.23T>C

1 paper

NM_018677.4

p.G11V

c.32G>T

1 paper

NM_018677.4

p.Q17R

c.50A>G

1 paper

NM_018677.4

p.E18K

c.52G>A

1 paper

NM_018677.4

p.G21G

c.63A>T

1 paper

NM_018677.4

p.R25R

c.75G>A