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.Y314N

c.940T>A

Surrounding Variants

1 paper

NM_004265.4

p.F306V

c.916T>G

1 paper

NM_004265.4

p.F322S

c.965T>C

1 paper

NM_004265.4

p.F325V

c.973T>G

1 paper

NM_004265.4

p.V300A

c.899T>C

1 paper

NM_004265.4

p.W298S

c.893G>C

1 paper

NM_004265.4

p.V344A

c.1031T>C

1 paper

NM_004265.4

p.S357T

c.1070G>C

1 paper

NM_004265.4

p.I383delFs

c.1147_1148delAT

1 paper

NM_004265.4

p.S405S

c.1215T>C

1 paper

NM_004265.4

p.I412F

c.1234A>T

1 paper

NM_004265.4

p.V289V

c.867C>A

1 paper

NM_004265.4

p.T286I

c.857C>T