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.V194insFs

c.582dupC

Surrounding Variants

1 paper

NM_003676.4

p.Q193K

c.577C>A

1 paper

NM_003676.4

p.F196fs

c.586_587fs

1 paper

NM_003676.4

p.A192E

c.575C>A

1 paper

NM_003676.4

p.V191M

c.571G>A

6 papers

NM_003676.4

p.N189D

c.565A>G

1 paper

NM_003676.4

p.Y201insFs

c.601dupT

5 papers

NM_003676.4

p.Y201C

c.602A>G

1 paper

NM_003676.4

p.Y202delFs

c.604delT

2 papers

NM_003676.4

p.Y202fs

c.604_605fs

1 paper

NM_003676.4

p.T183M

c.548C>T

1 paper

NM_003676.4

p.G205V

c.614G>T

1 paper

NM_003676.4

p.I177M

c.531C>G