Varaico: Literature-Extracted Genetic Variants

DEGS1

122 papers

RefSeq Summary

This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containi...

Pfam Domains

Lipid_DESaa 6–42UCSCSphingolipid Delta4-desaturase (DES)

FA_desaturaseaa 64–293UCSCFatty acid desaturase

Gene Aliases

HGNC Name

delta 4-desaturase, sphingolipid 1

HGNC Alias Symbols

MLD; Des-1; DES1; FADS7; DEGS-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003676.4

p.L251F

c.753A>C

Surrounding Variants

1 paper

NM_003676.4

p.L251F

c.753A>T

1 paper

NM_003676.4

p.L251fs

c.751_752fs

1 paper

NM_003676.4

p.L251fs

c.751_752fs

1 paper

NM_003676.4

p.L251insFs

c.752_753insT

9 papers

NM_003676.4

p.N255S

c.764A>G

NM_001321542.2

p.N219S

c.656A>G

1 paper

NM_003676.4

p.G257S

c.769G>A

1 paper

NM_003676.4

p.G257D

c.770G>A

1 paper

NM_003676.4

p.E241G

c.722A>G

2 papers

NM_003676.4

p.E241K

c.721G>A

1 paper

NM_003676.4

p.N267S

c.800A>G

1 paper

NM_003676.4

p.G270E

c.809G>A

1 paper

NM_003676.4

p.G270A

c.809G>C