Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.V254V

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
1 paper
NM_004837.4
p.V254V
c.762A>G
Surrounding Variants
1 paper
NM_004837.4
p.D253E
c.759T>A
1 paper
NM_004837.4
p.D253E
c.759T>G
1 paper
NM_004837.4
p.S256S
c.768T>A
5 papers
NM_004837.4
p.F257C
c.770T>G
2 papers
NM_004837.4
p.Y259C
c.776A>G
3 papers
NM_004837.4
p.R261G
c.781C>G
6 papers
NM_004837.4
p.R261H
c.782G>A
3 papers
NM_004837.4
p.Y246D
c.736T>G
1 paper
NM_004837.4
p.K245fs
c.733_734fs
1 paper
NM_004837.4
p.I243L
c.727A>C
1 paper
NM_004837.4
p.I243L
c.727A>T
3 papers
NM_004837.4
p.R235C
c.703C>T
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