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.G395R

c.1183G>A

Surrounding Variants

1 paper

NM_001096.3

p.G395Splc

c.1183+1G>A

1 paper

NM_001096.3

p.R359R

c.1075A>C

1 paper

NM_001096.3

p.G395R

c.1183G>C

1 paper

NM_001096.3

p.G395R

c.1183G>A

1 paper

NM_001096.3

p.T398S

c.1192A>T

1 paper

NM_001096.3

p.T398S

c.1193C>G

1 paper

NM_001096.3

p.R422W

c.1264C>T

1 paper

NM_001096.3

p.T430K

c.1289C>A

1 paper

NM_001096.3

p.G443R

c.1327G>C

1 paper

NM_001096.3

p.G443R

c.1327G>A

1 paper

NM_001096.3

p.N346_F347del1

c.1038_1040delAAG

1 paper

NM_001096.3

p.K331E

c.991A>G