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.N106_S107Splc

c.319-1164A>G

Surrounding Variants

1 paper

NM_004265.4

p.N106_S107Splc

c.318+139T>A

1 paper

NM_004265.4

p.K108delFs

c.324delG

1 paper

NM_004265.4

p.T119S

c.355A>T

1 paper

NM_004265.4

p.A138V

c.413C>T

2 papers

NM_004265.4

p.G104S

c.310G>A

1 paper

NM_004265.4

p.H103N

c.307C>A

1 paper

NM_004265.4

p.E97K

c.289G>A

1 paper

NM_004265.4

p.E93V

c.278A>T

1 paper

NM_004265.4

p.G92D

c.275G>A

3 papers

NM_004265.4

p.L162V

c.484C>G

1 paper

NM_004265.4

p.L168F

c.502C>T

1 paper

NM_004265.4

p.G83D

c.248G>A