Varaico: Literature-Extracted Genetic Variants

FADS2

106 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 22–95UCSCCytochrome b5-like Heme/Steroid binding domain

FA_desaturaseaa 156–418UCSCFatty acid desaturase

Gene Aliases

HGNC Name

fatty acid desaturase 2

HGNC Previous Symbol

LLCDL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004265.4

p.T286I

c.857C>T

Surrounding Variants

1 paper

NM_004265.4

p.V289V

c.867C>A

1 paper

NM_004265.4

p.F279delFs

c.836delT

1 paper

NM_004265.4

p.P272Q

c.815C>A

1 paper

NM_004265.4

p.I269Splc

c.806-20C>T

1 paper

NM_004265.4

p.I269Splc

c.806-40G>A

1 paper

NM_004265.4

p.I269Splc

c.805+10C>T

1 paper

NM_004265.4

p.E264K

c.790G>A

1 paper

NM_004265.4

p.Y249H

c.745T>C

1 paper

NM_004265.4

p.E248_Y249Splc

c.744+4073C>A

1 paper

NM_004265.4

p.W298S

c.893G>C

1 paper

NM_004265.4

p.V300A

c.899T>C

1 paper

NM_004265.4

p.F306V

c.916T>G