Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.P421L

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
3 papers
NM_004957.6
p.P421L
c.1262C>T
Surrounding Variants
1 paper
NM_004957.6
p.R419W
c.1255C>T
1 paper
NM_004957.6
p.A423A
c.1269C>T
1 paper
NM_004957.6
p.D418A
c.1253A>C
1 paper
NM_004957.6
p.G417E
c.1250G>A
4 papers
NM_004957.6
p.G417R
c.1249G>A
3 papers
NM_004957.6
p.G417R
c.1249G>C
1 paper
NM_004957.6
p.Q429P
c.1286A>C
1 paper
NM_004957.6
p.R409G
c.1225C>G
1 paper
NM_004957.6
p.Q429_P430Splc
c.1287+55C>T
1 paper
NM_004957.6
p.G398V
c.1193G>T
1 paper
NM_004957.6
p.A395A
c.1185G>A
1 paper
NM_004957.6
p.W391C
c.1173G>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."