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.R668Q

c.2003G>A

Surrounding Variants

1 paper

NM_018677.4

p.M663V

c.1987A>G

1 paper

NM_018677.4

p.D674N

c.2020G>A

1 paper

NM_018677.4

p.D674A

c.2021A>C

1 paper

NM_018677.4

p.I662T

c.1985T>C

1 paper

NM_018677.4

p.D674E

c.2022C>A

1 paper

NM_018677.4

p.D674E

c.2022C>G

1 paper

NM_018677.4

p.K661R

c.1982A>G

2 papers

NM_018677.4

p.R658H

c.1973G>A

1 paper

NM_018677.4

p.Q649E

c.1945C>G

1 paper

NM_018677.4

p.A643V

c.1928C>T

1 paper

NM_018677.4

p.F623L

c.1869C>A

1 paper

NM_018677.4

p.F623L

c.1869C>G