Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.T50S

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.T50S
c.148A>T
Surrounding Variants
1 paper
NM_004462.5
p.L47I
c.139C>A
4 papers
NM_004462.5
p.K45R
c.134A>G
1 paper
NM_004462.5
p.A55E
c.164C>A
1 paper
NM_004462.5
p.S38I
c.113G>T
1 paper
NM_004462.5
p.S37N
c.110G>A
1 paper
NM_004462.5
p.G63E
c.188G>A
1 paper
NM_004462.5
p.E64V
c.191A>T
1 paper
NM_004462.5
p.R66H
c.197G>A
1 paper
NM_004462.5
p.R66Splc
c.197+50C>T
1 paper
NM_001287750.2
p.Q64H
c.192G>C
1 paper
NM_004462.5
p.Q33_D34Splc
c.99+5469T>C
1 paper
NM_004462.5
p.R66_N67ins2
c.198_199ins6
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