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.E249V

c.746A>T

Surrounding Variants

1 paper

NM_001096.3

p.R244R

c.732G>C

1 paper

NM_001096.3

p.A223T

c.667G>A

1 paper

NM_001096.3

p.Y213*

c.639T>A

1 paper

NM_001096.3

p.K259E

c.775A>G

1 paper

NM_001096.3

p.L266fs

c.796_797fs

1 paper

NM_001096.3

p.G283D

c.848G>A

1 paper

NM_001096.3

p.A284_S285delFs

c.852_855del4

1 paper

NM_001096.3

p.F197S

c.590T>C

2 papers

NM_001096.3

p.E193Q

c.577G>C

1 paper

NM_001096.3

p.F189F

c.567C>T

1 paper

NM_001096.3

p.G297fs

c.889_890fs

1 paper

NM_001096.3

p.G309D

c.926G>A