Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.Y174F

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.Y174F
c.521A>T
Surrounding Variants
1 paper
NM_004462.5
p.Y174S
c.521A>C
1 paper
NM_004462.5
p.Y174H
c.520T>C
1 paper
NM_004462.5
p.C172C
c.516C>T
2 papers
NM_004462.5
p.Y171S
c.512A>C
2 papers
NM_004462.5
p.Y171F
c.512A>T
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.R185G
c.553C>G
12 papers
NM_004462.5
p.E193_G198del6
c.577_593del18
1 paper
NM_004462.5
p.E193_A204del12
c.577_611del36
1 paper
NM_004462.5
p.E193*
c.577G>T
1 paper
NM_004462.5
p.G198_E199ins6
c.592_596ins18
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