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

4 papers

NM_013402.7

p.P446L

c.1337C>T

Surrounding Variants

1 paper

NM_013402.7

p.T447M

c.1340C>T

1 paper

NM_013402.7

p.L459fs

c.1375_1376fs

1 paper

NM_013402.7

p.L459delFs

c.1376delA

1 paper

NM_013402.7

p.S473F

c.1418C>T

1 paper

NM_013402.7

p.L476L

c.1426C>T

1 paper

NM_013402.7

p.L495_D496del1

c.1484_1486delCTA

1 paper

NM_013402.7

p.N398K

c.1194C>G

1 paper

NM_013402.7

p.N398K

c.1194C>A

1 paper

NM_013402.7

p.W393C

c.1179G>T

1 paper

NM_013402.7

p.W393C

c.1179G>C

1 paper

NM_013402.7

p.V383V

c.1149C>G

1 paper

NM_013402.7

p.V351_D352Splc

c.1054-143C>T