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.T10A

c.28A>G

Surrounding Variants

1 paper

NM_001096.3

p.M1del1

c.1_3delCAT

1 paper

NM_001096.3

p.I19F

c.55A>T

1 paper

NM_001096.3

p.F29del1

c.85_86delGAA

1 paper

NM_001096.3

p.V34L

c.100G>C

1 paper

NM_001096.3

p.W49C

c.147G>T

1 paper

NM_001096.3

p.W49C

c.147G>C

1 paper

NM_001096.3

p.L51I

c.151C>A

1 paper

NM_001096.3

p.L51R

c.152T>G

1 paper

NM_001096.3

p.S52fs

c.154_155fs

1 paper

NM_001096.3

p.S52delFs

c.155_156delGC

1 paper

NM_001096.3

p.L71P

c.212T>C

1 paper

NM_001096.3

p.V72F

c.214G>T