Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.E193*

FDFT1

120 papers

RefSeq Summary

This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimeriz...

Pfam Domains

SQS_PSYaa 47–320UCSCSqualene/phytoene synthase

Gene Aliases

HGNC Name

farnesyl-diphosphate farnesyltransferase 1

HGNC Alias Symbol

SQS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004462.5
p.E193*
c.577G>T
Surrounding Variants
1 paper
NM_004462.5
p.E193_A204del12
c.577_611del36
12 papers
NM_004462.5
p.E193_G198del6
c.577_593del18
1 paper
NM_004462.5
p.G198_E199ins6
c.592_596ins18
1 paper
NM_004462.5
p.R185G
c.553C>G
1 paper
NM_004462.5
p.T201K
c.602C>A
1 paper
NM_004462.5
p.R203fs
c.607_608fs
1 paper
NM_004462.5
p.R203_S206Fs
c.607_617delinsTFs
1 paper
NM_004462.5
p.G180R
c.538G>A
1 paper
NM_004462.5
p.G180R
c.538G>C
1 paper
NM_004462.5
p.G208delins
c.622_623delinsAA
1 paper
NM_004462.5
p.F210L
c.628T>C
1 paper
NM_004462.5
p.F210L
c.630T>A
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