Varaico: Literature-Extracted Genetic Variants

Gene:GGPS1
Variant:p.M147I

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.M147I
c.441G>T
Surrounding Variants
1 paper
NM_004837.4
p.M147I
c.441G>A
1 paper
NM_004837.4
p.M147I
c.441G>C
1 paper
NM_004837.4
p.M147V
c.439A>G
2 papers
NM_004837.4
p.A146D
c.437C>A
1 paper
NM_004837.4
p.E143D
c.429A>C
1 paper
NM_004837.4
p.E143D
c.429A>T
1 paper
NM_004837.4
p.E143K
c.427G>A
1 paper
NM_004837.4
p.L155P
c.464T>C
1 paper
NM_004837.4
p.G125A
c.374G>C
1 paper
NM_004837.4
p.F115fs
c.343_344fs
1 paper
NM_004837.4
p.G181V
c.542G>T
1 paper
NM_004837.4
p.L182P
c.545T>C
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