Varaico: Literature-Extracted Genetic Variants

FADS1

118 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 21–94UCSCCytochrome b5-like Heme/Steroid binding domain

Cyt-b5aa 78–151UCSCCytochrome b5-like Heme/Steroid binding domain

FA_desaturaseaa 155–418UCSCFatty acid desaturase

Gene Aliases

HGNC Name

fatty acid desaturase 1

HGNC Previous Symbol

LLCDL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013402.7

p.G263A

c.788G>C

Surrounding Variants

1 paper

NM_013402.7

p.G263E

c.788G>A

3 papers

NM_013402.7

p.C282Y

c.845G>A

2 papers

NM_013402.7

p.D286Y

c.856G>T

1 paper

NM_013402.7

p.S303F

c.908C>T

1 paper

NM_013402.7

p.S247L

c.740C>T

1 paper

NM_013402.7

p.L241ins2

c.721_722ins6

1 paper

NM_013402.7

p.A226V

c.677C>T

1 paper

NM_013402.7

p.L223L

c.667C>T

1 paper

NM_013402.7

p.P216S

c.646C>T

1 paper

NM_013402.7

p.G211E

c.632G>A

1 paper

NM_013402.7

p.K183K

c.549G>A

1 paper

NM_013402.7

p.M182insFs

c.544_545ins5