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.I306L

c.916A>C

Surrounding Variants

1 paper

NM_003676.4

p.I306V

c.916A>G

1 paper

NM_003676.4

p.I306L

c.916A>T

1 paper

NM_003676.4

p.D304G

c.911A>G

2 papers

NM_003676.4

p.R311*

c.931A>T

1 paper

NM_003676.4

p.V301M

c.901G>A

2 papers

NM_003676.4

p.R311K

c.932G>A

1 paper

NM_003676.4

p.D299G

c.896A>G

1 paper

NM_003676.4

p.M312I

c.936G>C

3 papers

NM_003676.4

p.W293*

c.879G>A

1 paper

NM_003676.4

p.G318_E319del1

c.954_956delAGA

4 papers

NM_003676.4

p.W293*

c.878G>A

1 paper

NM_003676.4

p.S292T

c.874T>A