Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.L33F

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.L33F
c.99G>T
Surrounding Variants
1 paper
NM_004077.3
p.L33F
c.99G>C
1 paper
NM_004077.3
p.L33W
c.98T>G
1 paper
NM_004077.3
p.K34R
c.101A>G
1 paper
NM_004077.3
p.N32N
c.96T>C
1 paper
NM_004077.3
p.N32K
c.96T>A
1 paper
NM_004077.3
p.D35Y
c.103G>T
5 papers
NM_004077.3
p.N32S
c.95A>G
1 paper
NM_004077.3
p.D35V
c.104A>T
2 papers
NM_004077.3
p.T31_N32Splc
c.94-1G>A
1 paper
NM_004077.3
p.T31_N32Splc
c.94-2A>G
1 paper
NM_004077.3
p.L37insFs
c.109_110ins5
1 paper
NM_004077.3
p.A38P
c.112G>C
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