Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.K14_N15Splc

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.K14_N15Splc
c.43-2A>G
Surrounding Variants
10 papers
NM_004077.3
p.K14_N15Splc
c.43-1G>T
2 papers
NM_004077.3
p.K14_N15Splc
c.43-1G>A
1 paper
NM_004077.3
p.N15D
c.43A>G
1 paper
NM_004077.3
p.N15I
c.44A>T
1 paper
NM_004077.3
p.K14_N15Splc
c.43-6T>G
2 papers
NM_004077.3
p.K14_N15Splc
c.43-6T>C
2 papers
NM_004077.3
p.A16V
c.47C>T
1 paper
NM_004077.3
p.A16G
c.47C>G
1 paper
NM_004077.3
p.A16_S17insFs
c.48_49insA
1 paper
NM_004077.3
p.S17T
c.49T>A
1 paper
NM_004077.3
p.S17Y
c.50C>A
1 paper
NM_004077.3
p.C18S
c.52T>A
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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."