Varaico: Literature-Extracted Genetic Variants

Gene:FPGS
Variant:p.H7Y

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.H7Y
c.19C>T
Surrounding Variants
1 paper
NM_004957.6
p.H7N
c.19C>A
1 paper
NM_004957.6
p.S6N
c.17G>A
1 paper
NM_004957.6
p.A11V
c.32C>T
1 paper
NM_004957.6
p.M1I
c.3G>A
2 papers
NM_004957.6
p.F13L
c.37T>C
2 papers
NM_004957.6
p.F13L
c.39C>A
2 papers
NM_004957.6
p.F13L
c.39C>G
1 paper
NM_004957.6
p.A17T
c.49G>A
1 paper
NM_004957.6
p.A17A
c.51G>T
10 papers
NM_004957.6
p.I22V
c.64A>G
1 paper
NM_004957.6
p.I22M
c.66A>G
1 paper
NM_004957.6
p.A27V
c.80C>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."