Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.G12delFs

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.G12delFs
c.35delC
Surrounding Variants
1 paper
NM_004077.3
p.G12insFs
c.35_36insG
5 papers
NM_004077.3
p.G12V
c.35G>T
5 papers
NM_004077.3
p.G12A
c.35G>C
1 paper
NM_004077.3
p.G12E
c.35G>A
3 papers
NM_004077.3
p.G12*
c.34G>T
1 paper
NM_004077.3
p.G12R
c.34G>C
5 papers
NM_004077.3
p.G12R
c.34G>A
1 paper
NM_004077.3
p.T13insFs
c.38_39insG
1 paper
NM_004077.3
p.L11F
c.33G>C
1 paper
NM_004077.3
p.L11W
c.32T>G
2 papers
NM_004077.3
p.L11M
c.31T>A
1 paper
NM_004077.3
p.K14K
c.42G>A
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