Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.F254L

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.F254L
c.762C>G
Surrounding Variants
1 paper
NM_004957.6
p.F254L
c.762C>A
1 paper
NM_004957.6
p.F254L
c.760T>C
1 paper
NM_004957.6
p.P259R
c.776C>G
1 paper
NM_004957.6
p.R267T
c.800G>C
1 paper
NM_004957.6
p.S274_C275Splc
c.822+19G>A
3 papers
NM_004957.6
p.E287K
c.859G>A
1 paper
NM_004957.6
p.G289delFs
c.865_866delGG
1 paper
NM_004957.6
p.G289fs
c.865_866fs
1 paper
NM_004957.6
p.R303W
c.907C>T
1 paper
NM_004957.6
p.R303R
c.909G>A
1 paper
NM_004957.6
p.S304C
c.911C>G
1 paper
NM_004957.6
p.Q311*
c.931C>T
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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."