Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.A8V

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.A8V
c.23C>T
Surrounding Variants
1 paper
NM_004077.3
p.R9W
c.25C>T
1 paper
NM_004077.3
p.R9G
c.25C>G
2 papers
NM_004077.3
p.R9Q
c.26G>A
1 paper
NM_004077.3
p.L10V
c.28C>G
1 paper
NM_004077.3
p.L10I
c.28C>A
1 paper
NM_004077.3
p.R9delFs
c.27delC
1 paper
NM_004077.3
p.L10R
c.29T>G
1 paper
NM_004077.3
p.L10L
c.30C>A
2 papers
NM_004077.3
p.L11M
c.31T>A
1 paper
NM_004077.3
p.L11W
c.32T>G
1 paper
NM_004077.3
p.T5S
c.14C>G
1 paper
NM_004077.3
p.L11F
c.33G>C
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