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

1–12 of 115 variants

9 papers

NM_003676.4

p.N255S

c.764A>G

6 papers

NM_003676.4

p.D143N

c.427G>A

6 papers

NM_003676.4

p.N189D

c.565A>G

6 papers

NM_003676.4

p.A280V

c.839C>T

5 papers

NM_003676.4

p.M37T

c.110T>C

5 papers

NM_003676.4

p.H132R

c.395A>G

5 papers

NM_003676.4

p.Y201C

c.602A>G

4 papers

NM_003676.4

p.W107*

c.320G>A

4 papers

NM_003676.4

p.W107*

c.321G>A

4 papers

NM_003676.4

p.N113D

c.337A>G

4 papers

NM_003676.4

p.R173*

c.517C>T

4 papers

NM_003676.4

p.W293*

c.878G>A