Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.N294S

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.N294S
c.881A>G
Surrounding Variants
1 paper
NM_004077.3
p.G295_L296insFs
c.885_886insA
2 papers
NM_004077.3
p.A292T
c.874G>A
1 paper
NM_004077.3
p.A291insFs
c.871_872insT
2 papers
NM_004077.3
p.A291T
c.871G>A
1 paper
NM_004077.3
p.G298R
c.892G>C
1 paper
NM_004077.3
p.G298R
c.892G>A
1 paper
NM_004077.3
p.G298insFs
c.893_894ins29
1 paper
NM_004077.3
p.G298E
c.893G>A
1 paper
NM_004077.3
p.G298G
c.894G>T
1 paper
NM_004077.3
p.A290insFs
c.868_869insT
1 paper
NM_004077.3
p.L300F
c.898C>T
5 papers
NM_004077.3
p.S288C
c.863C>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."