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.M1insFs

c.1_2insC

Surrounding Variants

2 papers

NM_013402.7

p.L11P

c.32T>C

3 papers

NM_013402.7

p.P12A

c.34C>G

1 paper

NM_013402.7

p.G26V

c.77G>T

1 paper

NM_013402.7

p.G26G

c.78C>G

1 paper

NM_013402.7

p.S35N

c.104G>A

1 paper

NM_013402.7

p.A54T

c.160G>A

1 paper

NM_013402.7

p.D61N

c.181G>A

1 paper

NM_013402.7

p.A65D

c.194C>A

1 paper

NM_013402.7

p.P72S

c.214C>T

1 paper

NM_013402.7

p.C88Y

c.263G>A

1 paper

NM_013402.7

p.L93L

c.277C>T

1 paper

NM_013402.7

p.Y100*

c.300C>G