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

1–12 of 64 variants

3 papers

NM_004265.4

p.N6N

c.18C>T

3 papers

NM_004265.4

p.L162V

c.484C>G

2 papers

NM_004265.4

p.T69_D70Splc

c.207+564C>T

2 papers

NM_004265.4

p.T69_D70Splc

c.207+4273A>C

2 papers

NM_004265.4

p.G104S

c.310G>A

2 papers

NM_004265.4

p.A222V

c.665C>T

1 paper

NM_004265.4

p.E13V

c.38A>T

1 paper

NM_004265.4

p.E24K

c.70G>A

1 paper

NM_004265.4

p.E24G

c.71A>G

1 paper

NM_004265.4

p.R35K

c.104G>A

1 paper

NM_004265.4

p.V38V

c.114C>A

1 paper

NM_004265.4

p.K42Q

c.124A>C