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

6 papers

NM_003676.4

p.D143N

c.427G>A

Surrounding Variants

1 paper

NM_003676.4

p.V140V

c.420C>T

1 paper

NM_003676.4

p.V140insFs

c.418_419insC

1 paper

NM_003676.4

p.W151*

c.452G>A

1 paper

NM_003676.4

p.W151*

c.453G>A

2 papers

NM_003676.4

p.R133W

c.397C>T

5 papers

NM_003676.4

p.H132R

c.395A>G

1 paper

NM_003676.4

p.T155S

c.464C>G

1 paper

NM_003676.4

p.H131_L135del0

c.392_403del12

1 paper

NM_003676.4

p.R126W

c.376A>T

2 papers

NM_003676.4

p.W162*

c.485G>A

2 papers

NM_003676.4

p.W162*

c.486G>A

1 paper

NM_003676.4

p.L168L

c.504C>A