Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1

GGPS1

69 papers

RefSeq Summary

This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphospha...

Pfam Domains

polyprenyl_syntaa 9–251UCSCPolyprenyl synthetase

Gene Aliases

HGNC Name

geranylgeranyl diphosphate synthase 1

HGNC Alias Symbol

GGPPS1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
8 papers
NM_004837.4
p.D188Y
c.562G>T
6 papers
NM_004837.4
p.R261H
c.782G>A
5 papers
NM_004837.4
p.F257C
c.770T>G
3 papers
NM_004837.4
p.N90S
c.269A>G
3 papers
NM_004837.4
p.R235C
c.703C>T
3 papers
NM_004837.4
p.Y246D
c.736T>G
3 papers
NM_004837.4
p.R261G
c.781C>G
2 papers
NM_004837.4
p.P15S
c.43C>T
2 papers
NM_004837.4
p.R74H
c.221G>A
2 papers
NM_004837.4
p.I89F
c.265A>T
2 papers
NM_004837.4
p.A146D
c.437C>A
2 papers
NM_004837.4
p.Y259C
c.776A>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."