Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.P15S

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
Selected Variant
2 papers
NM_004837.4
p.P15S
c.43C>T
Surrounding Variants
1 paper
NM_004837.4
p.T4A
c.10A>G
1 paper
NM_004837.4
p.E2insFs
c.6dupG
1 paper
NM_004837.4
p.Q26L
c.77A>T
1 paper
NM_004837.4
p.W38C
c.114G>C
1 paper
NM_004837.4
p.W38C
c.114G>T
1 paper
NM_004837.4
p.P42fs
c.124_125fs
1 paper
NM_004837.4
p.Q47K
c.139C>A
1 paper
NM_004837.4
p.L61*
c.182T>A
1 paper
NM_004837.4
p.I66L
c.196A>C
2 papers
NM_004837.4
p.R74H
c.221G>A
1 paper
NM_004837.4
p.F76Y
c.227T>A
2 papers
NM_004837.4
p.I89F
c.265A>T
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