Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.A503V

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.A503V
c.1508C>T
Surrounding Variants
1 paper
NM_004957.6
p.H508insFs
c.1522dupC
1 paper
NM_004957.6
p.S499F
c.1496C>T
1 paper
NM_004957.6
p.H508fs
c.1522_1523fs
1 paper
NM_004957.6
p.S513R
c.1537A>C
1 paper
NM_004957.6
p.S513R
c.1539C>A
1 paper
NM_004957.6
p.S513R
c.1539C>G
1 paper
NM_004957.6
p.A489V
c.1466C>T
1 paper
NM_004957.6
p.E480Fs
c.1440delinsACFs
1 paper
NM_004957.6
p.W526L
c.1577G>T
1 paper
NM_004957.6
p.Q529E
c.1585C>G
1 paper
NM_004957.6
p.N475S
c.1424A>G
2 papers
NM_004957.6
p.H470R
c.1409A>G
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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."