Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.K193_V194Splc

FPGS

110 papers

RefSeq Summary

This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, there...

Gene Aliases

HGNC Name

folylpolyglutamate synthase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004957.6
p.K193_V194Splc
c.580-19G>A
Surrounding Variants
3 papers
NM_004957.6
p.D195H
c.583G>C
1 paper
NM_004957.6
p.E200V
c.599A>T
3 papers
NM_004957.6
p.C209R
c.625T>C
1 paper
NM_004957.6
p.K193*
c.577A>T
1 paper
NM_004957.6
p.R179H
c.536G>A
1 paper
NM_004957.6
p.M174T
c.521T>C
1 paper
NM_004957.6
p.S173P
c.517T>C
2 papers
NM_004957.6
p.V217M
c.649G>A
1 paper
NM_004957.6
p.V217V
c.651G>A
1 paper
NM_004957.6
p.G220A
c.659G>C
1 paper
NM_004957.6
p.S222F
c.665C>T
1 paper
NM_004957.6
p.S223P
c.667T>C
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