Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.S288C

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
5 papers
NM_004077.3
p.S288C
c.863C>G
Surrounding Variants
1 paper
NM_004077.3
p.S288Y
c.863C>A
1 paper
NM_004077.3
p.L287L
c.861G>T
1 paper
NM_004077.3
p.Y286insFs
c.858dupC
1 paper
NM_004077.3
p.A290insFs
c.868_869insT
1 paper
NM_004077.3
p.A291insFs
c.871_872insT
2 papers
NM_004077.3
p.A291T
c.871G>A
2 papers
NM_004077.3
p.A292T
c.874G>A
1 paper
NM_004077.3
p.L282P
c.845T>C
1 paper
NM_004077.3
p.N294S
c.881A>G
1 paper
NM_004077.3
p.L282F
c.844C>T
1 paper
NM_004077.3
p.L282V
c.844C>G
1 paper
NM_004077.3
p.A281V
c.842C>T
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