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

2 papers

NM_003676.4

p.Y284*

c.852T>A

Surrounding Variants

2 papers

NM_003676.4

p.Y284*

c.852T>G

1 paper

NM_003676.4

p.Y284C

c.851A>G

2 papers

NM_003676.4

p.Y284_D285delFs

c.852_855del4

1 paper

NM_003676.4

p.Y283*

c.849C>G

1 paper

NM_003676.4

p.P288T

c.862C>A

6 papers

NM_003676.4

p.A280V

c.839C>T

1 paper

NM_003676.4

p.I279K

c.836T>A

1 paper

NM_003676.4

p.Y290C

c.869A>G

1 paper

NM_001321542.2

p.N255S

c.764A>G

1 paper

NM_003676.4

p.S292T

c.874T>A

4 papers

NM_003676.4

p.W293*

c.878G>A

3 papers

NM_003676.4

p.W293*

c.879G>A