Varaico: Literature-Extracted Genetic Variants

Gene:CS

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
1–12 of 416 variants
10 papers
NM_004077.3
p.K14_N15Splc
c.43-1G>T
5 papers
NM_004077.3
p.G12R
c.34G>A
5 papers
NM_004077.3
p.G12V
c.35G>T
5 papers
NM_004077.3
p.G12A
c.35G>C
5 papers
NM_004077.3
p.N32S
c.95A>G
5 papers
NM_004077.3
p.V151V
c.453G>A
5 papers
NM_004077.3
p.S288C
c.863C>G
4 papers
NM_004077.3
p.M1T
c.2T>C
3 papers
NM_004077.3
p.M1I
c.3G>A
3 papers
NM_004077.3
p.G12*
c.34G>T
3 papers
NM_004077.3
p.L40L
c.120G>A
3 papers
NM_004077.3
p.H55N
c.163C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."