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.F157S

c.470T>C

Surrounding Variants

1 paper

NM_013402.7

p.T160S

c.479C>G

1 paper

NM_013402.7

p.T160T

c.480C>T

1 paper

NM_013402.7

p.E153A

c.458A>C

1 paper

NM_013402.7

p.L150P

c.449T>C

1 paper

NM_013402.7

p.V129L

c.385G>T

1 paper

NM_013402.7

p.V129L

c.385G>C

1 paper

NM_013402.7

p.P127S

c.379C>T

1 paper

NM_013402.7

p.D167V

c.500A>T

1 paper

NM_013402.7

p.L172L

c.514C>T

2 papers

NM_013402.7

p.R178Q

c.533G>A

1 paper

NM_013402.7

p.V176_M179Fs

c.526_537delinsCAFs

1 paper

NM_013402.7

p.M182insFs

c.544_545ins5