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

5 papers

NM_003676.4

p.M37T

c.110T>C

Surrounding Variants

1 paper

NM_003676.4

p.S35S

c.105C>A

1 paper

NM_003676.4

p.L36_N42insFs

c.106_124dup19

1 paper

NM_003676.4

p.I33M

c.99A>G

1 paper

NM_003676.4

p.I44_W45del2

c.130_134del6

1 paper

NM_003676.4

p.K29E

c.85A>G

1 paper

NM_003676.4

p.A28fs

c.82_83fs

3 papers

NM_003676.4

p.L52P

c.155T>C

1 paper

NM_003676.4

p.G56D

c.167G>A

1 paper

NM_003676.4

p.D63delFs

c.189delC

1 paper

NM_003676.4

p.D65E

c.195C>G

1 paper

NM_003676.4

p.V69I

c.205G>A

1 paper

NM_003676.4

p.L86L

c.256C>T