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

2 papers

NM_018677.4

p.P171S

c.511C>T

Surrounding Variants

1 paper

NM_018677.4

p.M167I

c.501G>A

1 paper

NM_018677.4

p.M167I

c.501G>C

1 paper

NM_018677.4

p.M167I

c.501G>T

1 paper

NM_018677.4

p.M177K

c.530T>A

3 papers

NM_018677.4

p.A181V

c.542C>T

1 paper

NM_018677.4

p.S149R

c.447C>A

1 paper

NM_018677.4

p.S149R

c.447C>G

1 paper

NM_018677.4

p.S149R

c.445A>C

1 paper

NM_018677.4

p.F194L

c.580T>C

1 paper

NM_018677.4

p.F194L

c.582C>A

1 paper

NM_018677.4

p.F194L

c.582C>G

1 paper

NM_018677.4

p.S195F

c.584C>T