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

5 papers

NM_001096.3

p.E175D

c.525A>C

Surrounding Variants

5 papers

NM_001096.3

p.E175D

c.525A>T

1 paper

NM_001096.3

p.E158K

c.472G>A

1 paper

NM_001096.3

p.G155_V156del2

c.463_467del6

1 paper

NM_001096.3

p.D157N

c.469G>A

1 paper

NM_001096.3

p.V156M

c.466G>A

1 paper

NM_001096.3

p.V154A

c.461T>C

1 paper

NM_001096.3

p.V154F

c.460G>T

1 paper

NM_001096.3

p.D144A

c.431A>C

1 paper

NM_001096.3

p.D141D

c.423C>T

2 papers

NM_001096.3

p.G138E

c.413G>A

1 paper

NM_001096.3

p.V132I

c.394G>A

1 paper

NM_001096.3

p.R127*

c.379C>T