Varaico: Literature-Extracted Genetic Variants

Gene:FADS3
Variant:p.N108delFs

FADS3

56 papers

RefSeq Summary

The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between d...

Pfam Domains

Cyt-b5aa 24–97UCSCCytochrome b5-like Heme/Steroid binding domain
FA_desaturaseaa 158–419UCSCFatty acid desaturase

Gene Aliases

HGNC Name

fatty acid desaturase 3

HGNC Previous Symbol

LLCDL3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021727.5
p.N108delFs
c.323_324delAT
Surrounding Variants
1 paper
NM_021727.5
p.E99K
c.295G>A
1 paper
NM_021727.5
p.V84A
c.251T>C
1 paper
NM_021727.5
p.R75C
c.223C>T
1 paper
NM_021727.5
p.F74F
c.222C>T
1 paper
NM_021727.5
p.L111P
c.332T>C
1 paper
NM_021727.5
p.V112V
c.336C>T
1 paper
NM_021727.5
p.A121S
c.361G>T
2 papers
NM_021727.5
p.D129N
c.385G>A
1 paper
NM_021727.5
p.P132P
c.396C>T
1 paper
NM_021727.5
p.H182insFs
c.544_545ins5
1 paper
NM_021727.5
p.H182fs
c.544_545fs
1 paper
NM_021727.5
p.G185C
c.553G>T
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