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.G98Fs

c.292delinsCCFs

Surrounding Variants

1 paper

NM_003676.4

p.G98A

c.293G>C

2 papers

NM_003676.4

p.A96V

c.287C>T

1 paper

NM_003676.4

p.H93Q

c.279C>G

1 paper

NM_003676.4

p.A92T

c.274G>A

1 paper

NM_003676.4

p.N105I

c.314A>T

1 paper

NM_003676.4

p.E90E

c.270G>A

4 papers

NM_003676.4

p.W107*

c.320G>A

4 papers

NM_003676.4

p.W107*

c.321G>A

1 paper

NM_003676.4

p.F108insFs

c.324dupT

1 paper

NM_003676.4

p.G109R

c.325G>C

1 paper

NM_003676.4

p.L86L

c.256C>T

4 papers

NM_003676.4

p.N113D

c.337A>G