Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.F3L

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.F3L
c.7T>C
Surrounding Variants
1 paper
NM_004462.5
p.V4G
c.11T>G
1 paper
NM_004462.5
p.L7P
c.20T>C
1 paper
NM_004462.5
p.G8Fs
c.23delinsAGFs
1 paper
NM_004462.5
p.Y14C
c.41A>G
1 paper
NM_004462.5
p.L16L
c.46C>T
1 paper
NM_004462.5
p.L16P
c.47T>C
9 papers
NM_004462.5
p.G22delFs
c.65_66delGG
1 paper
NM_004462.5
p.G22_G23delFs
c.65_68del4
1 paper
NM_004462.5
p.K24delFs
c.71_72delAG
1 paper
NM_004462.5
p.K24_R25delFs
c.72_73delGC
1 paper
NM_004462.5
p.Q33_D34Splc
c.99+287G>A
1 paper
NM_004462.5
p.Q33_D34Splc
c.99+543A>G
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