Varaico: Literature-Extracted Genetic Variants

Gene:FDFT1
Variant:p.L76F

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.L76F
c.226C>T
Surrounding Variants
2 papers
NM_004462.5
p.L76_R77del0
c.226_231del6
1 paper
NM_004462.5
p.R77_A78ins14
c.231_232ins42
1 paper
NM_004462.5
p.R77_A78ins16
c.231_232ins48
1 paper
NM_004462.5
p.A78A
c.234T>C
1 paper
NM_001287744.2
p.F8Fs
c.23delinsAGFs
1 paper
NM_004462.5
p.F72_Y73del1
c.216_218delTTA
1 paper
NM_004462.5
p.F72_Y73del2
c.214_218del6
1 paper
NM_004462.5
p.I71_F72del1
c.212_214delTAT
1 paper
NM_004462.5
p.I71_F72del2
c.211_215del6
1 paper
NM_004462.5
p.N67N
c.201C>T
3 papers
NM_004462.5
p.R66R
c.198C>G
1 paper
NM_004462.5
p.R66_N67ins2
c.198_199ins6
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