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

1–12 of 113 variants

5 papers

NM_001096.3

p.E175D

c.525A>T

5 papers

NM_001096.3

p.E175D

c.525A>C

4 papers

NM_001096.3

p.S455A

c.1363T>G

3 papers

NM_001096.3

p.E599Q

c.1795G>C

2 papers

NM_001096.3

p.G90E

c.269G>A

2 papers

NM_001096.3

p.E117*

c.349G>T

2 papers

NM_001096.3

p.G138E

c.413G>A

2 papers

NM_001096.3

p.E193Q

c.577G>C

2 papers

NM_001096.3

p.P812delFs

c.2435delG

2 papers

NM_001096.3

p.D1026A

c.3077A>C

1 paper

NM_001096.3

p.M1del1

c.1_3delCAT

1 paper

NM_001096.3

p.T10A

c.28A>G