Varaico: Literature-Extracted Genetic Variants

Gene:FADS3
Variant:p.E249_Y250Splc

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.E249_Y250Splc
c.748-2A>C
Surrounding Variants
1 paper
NM_021727.5
p.R255L
c.764G>T
1 paper
NM_021727.5
p.P233L
c.698C>T
1 paper
NM_021727.5
p.H223Y
c.667C>T
1 paper
NM_021727.5
p.A212T
c.634G>A
1 paper
NM_021727.5
p.G185C
c.553G>T
1 paper
NM_021727.5
p.H182fs
c.544_545fs
1 paper
NM_021727.5
p.H182insFs
c.544_545ins5
1 paper
NM_021727.5
p.L277L
c.829C>T
2 papers
NM_021727.5
p.A286V
c.857C>T
1 paper
NM_021727.5
p.P132P
c.396C>T
2 papers
NM_021727.5
p.D129N
c.385G>A
1 paper
NM_021727.5
p.A121S
c.361G>T
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