Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.W141*

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.W141*
c.423G>A
Surrounding Variants
1 paper
NM_004077.3
p.A142S
c.424G>T
1 paper
NM_004077.3
p.W141*
c.422G>A
1 paper
NM_004077.3
p.K143E
c.427A>G
3 papers
NM_004077.3
p.E140K
c.418G>A
1 paper
NM_004077.3
p.K143R
c.428A>G
1 paper
NM_004077.3
p.K143N
c.429G>T
1 paper
NM_004077.3
p.K143N
c.429G>C
1 paper
NM_004077.3
p.S138A
c.412T>G
1 paper
NM_004077.3
p.A145V
c.434C>T
1 paper
NM_004077.3
p.A146S
c.436G>T
1 paper
NM_004077.3
p.W136R
c.406T>C
2 papers
NM_004077.3
p.S135C
c.404C>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."