Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.A2insFs

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.A2insFs
c.5_6insT
Surrounding Variants
1 paper
NM_004077.3
p.A2G
c.5C>G
1 paper
NM_004077.3
p.A2A
c.6T>G
1 paper
NM_004077.3
p.A2T
c.4G>A
2 papers
NM_004077.3
p.M1I
c.3G>T
1 paper
NM_004077.3
p.M1I
c.3G>C
3 papers
NM_004077.3
p.M1I
c.3G>A
4 papers
NM_004077.3
p.M1T
c.2T>C
1 paper
NM_004077.3
p.L3*
c.8T>A
1 paper
NM_004077.3
p.M1K
c.2T>A
1 paper
NM_004077.3
p.M1V
c.1A>G
1 paper
NM_004077.3
p.T5S
c.14C>G
1 paper
NM_004077.3
p.A8V
c.23C>T
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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."