Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.L168P

CS

1,005 papers

RefSeq Summary

The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells cap...

Pfam Domains

Citrate_syntaa 71–450UCSCCitrate synthase, C-terminal domain

Gene Aliases

HGNC Name

citrate synthase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004077.3
p.L168P
c.503T>C
Surrounding Variants
1 paper
NM_004077.3
p.Q167H
c.501G>T
1 paper
NM_004077.3
p.Q167H
c.501G>C
1 paper
NM_004077.3
p.Q167P
c.500A>C
1 paper
NM_004077.3
p.Q167E
c.499C>G
1 paper
NM_004077.3
p.A170V
c.509C>T
1 paper
NM_004077.3
p.A171T
c.511G>A
1 paper
NM_004077.3
p.V172delFs
c.514delC
1 paper
NM_004077.3
p.P164A
c.490C>G
1 paper
NM_004077.3
p.P164_M165insG
c.490_494ins3
1 paper
NM_004077.3
p.H163Y
c.487C>T
1 paper
NM_004077.3
p.A174insFs
c.520_521insT
1 paper
NM_004077.3
p.L162V
c.484C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."