Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.H55insFs

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.H55insFs
c.164_165insG
Surrounding Variants
1 paper
NM_004077.3
p.H55Y
c.163C>T
3 papers
NM_004077.3
p.H55N
c.163C>A
1 paper
NM_004077.3
p.G56delFs
c.166delC
1 paper
NM_004077.3
p.Q53*
c.157C>T
1 paper
NM_004077.3
p.R52delFs
c.156delC
1 paper
NM_004077.3
p.T58A
c.172A>G
1 paper
NM_004077.3
p.K57_T58insFs
c.171_172insG
1 paper
NM_004077.3
p.F51L
c.153C>G
1 paper
NM_004077.3
p.F51L
c.153C>A
1 paper
NM_004077.3
p.F51delFs
c.151delA
1 paper
NM_004077.3
p.V59A
c.176T>C
1 paper
NM_004077.3
p.F51S
c.152T>C
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