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

1 paper

NM_001096.3

p.P1019A

c.3055C>G

Surrounding Variants

2 papers

NM_001096.3

p.D1026A

c.3077A>C

1 paper

NM_001096.3

p.A1032T

c.3094G>A

1 paper

NM_001096.3

p.R1038_C1040del3

c.3112_3119del9

1 paper

NM_001096.3

p.D1049Y

c.3145G>T

1 paper

NM_001096.3

p.D1053Y

c.3157G>T

1 paper

NM_001096.3

p.L1008P

c.3023T>C

1 paper

NM_001096.3

p.P1002_L1003insFs

c.3006_3007insTA

1 paper

NM_001096.3

p.D1090N

c.3268G>A

1 paper

NM_001096.3

p.T925A

c.2773A>G

1 paper

NM_001096.3

p.R915Q

c.2744G>A

1 paper

NM_001096.3

p.V904I

c.2710G>A

1 paper

NM_001096.3

p.I890F

c.2668A>T