Varaico: Literature-Extracted Genetic Variants

ACLY

152 papers

RefSeq Summary

ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently ...

Pfam Domains

Citrate_synth_Naa 2–233UCSCATP-citrate synthase ATP-grasp domain

Citrate_bindaa 244–421UCSCATP citrate lyase citrate-binding

CoA_bindingaa 494–600UCSCCoA binding domain

Ligase_CoAaa 660–785UCSCCoA-ligase

Citrate_syntaa 881–1086UCSCCitrate synthase, C-terminal domain

Gene Aliases

HGNC Name

ATP citrate lyase

HGNC Alias Symbols

ATPCL; CLATP; ACL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001096.3

p.E599Q

c.1795G>C

Surrounding Variants

1 paper

NM_001096.3

p.E599A

c.1796A>C

1 paper

NM_001096.3

p.E599D

c.1797A>T

1 paper

NM_001096.3

p.E599D

c.1797A>C

1 paper

NM_001096.3

p.L609V

c.1825C>G

1 paper

NM_001096.3

p.A613V

c.1838C>T

1 paper

NM_001096.3

p.I621V

c.1861A>G

1 paper

NM_001096.3

p.T639A

c.1915A>G

1 paper

NM_001096.3

p.G641E

c.1922G>A

1 paper

NM_001096.3

p.S656N

c.1967G>A

1 paper

NM_001096.3

p.S667A

c.1999T>G

1 paper

NM_001096.3

p.N672S

c.2015A>G

1 paper

NM_001096.3

p.I674I

c.2022C>T