Varaico: Literature-Extracted Genetic Variants

Gene:FADS3
Variant:p.P318S

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.P318S
c.952C>T
Surrounding Variants
1 paper
NM_021727.5
p.F323_F324del1
c.969_971delAAG
1 paper
NM_021727.5
p.F323_F324del2
c.967_971del6
1 paper
NM_021727.5
p.R306H
c.917G>A
1 paper
NM_021727.5
p.E331A
c.992A>C
1 paper
NM_021727.5
p.I348I
c.1044C>T
1 paper
NM_021727.5
p.R354Q
c.1061G>A
2 papers
NM_021727.5
p.A286V
c.857C>T
1 paper
NM_021727.5
p.L277L
c.829C>T
1 paper
NM_021727.5
p.C365R
c.1093T>C
1 paper
NM_021727.5
p.V400G
c.1199T>G
1 paper
NM_021727.5
p.P402delFs
c.1205delG
1 paper
NM_021727.5
p.K405M
c.1214A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."