Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.R322C

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.R322C
c.964C>T
Surrounding Variants
1 paper
NM_004957.6
p.C315insFs
c.943_944insC
1 paper
NM_004957.6
p.Q311*
c.931C>T
1 paper
NM_004957.6
p.S304C
c.911C>G
1 paper
NM_004957.6
p.R303R
c.909G>A
1 paper
NM_004957.6
p.R303W
c.907C>T
1 paper
NM_004957.6
p.G289fs
c.865_866fs
1 paper
NM_004957.6
p.G289delFs
c.865_866delGG
1 paper
NM_004957.6
p.A325V
c.974C>T
3 papers
NM_004957.6
p.E287K
c.859G>A
1 paper
NM_004957.6
p.A342T
c.1024G>A
1 paper
NM_004957.6
p.P347S
c.1039C>T
1 paper
NM_004957.6
p.L353L
c.1059C>T
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