Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.S275S

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.S275S
c.825C>T
Surrounding Variants
1 paper
NM_004077.3
p.T274I
c.821C>T
1 paper
NM_004077.3
p.L277L
c.831G>A
1 paper
NM_004077.3
p.H273Y
c.817C>T
1 paper
NM_004077.3
p.H276_V278del3
c.826_833del9
1 paper
NM_004077.3
p.G279V
c.836G>T
1 paper
NM_004077.3
p.S271N
c.812G>A
1 paper
NM_004077.3
p.V270delFs
c.810delT
1 paper
NM_004077.3
p.A281V
c.842C>T
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.L282P
c.845T>C
1 paper
NM_004077.3
p.N269H
c.805A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."