Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.D219N

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.D219N
c.655G>A
Surrounding Variants
2 papers
NM_004462.5
p.D219E
c.657C>A
2 papers
NM_004462.5
p.D219E
c.657C>G
1 paper
NM_004462.5
p.L221L
c.663G>A
1 paper
NM_004462.5
p.I216_R218del3
c.646_653del9
1 paper
NM_004462.5
p.D223N
c.667G>A
2 papers
NM_004462.5
p.D223E
c.669C>A
2 papers
NM_004462.5
p.D223E
c.669C>G
2 papers
NM_004462.5
p.G226_W231del6
c.676_692del18
1 paper
NM_004462.5
p.Q212_T214del3
c.634_641del9
1 paper
NM_004462.5
p.F210L
c.630T>A
1 paper
NM_004462.5
p.F210L
c.630T>G
1 paper
NM_004462.5
p.F210L
c.628T>C
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