Varaico: Literature-Extracted Genetic Variants

Gene:DEGS2
Variant:p.N189D

DEGS2

20 papers

RefSeq Summary

This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipi...

Pfam Domains

Lipid_DESaa 6–42UCSCSphingolipid Delta4-desaturase (DES)
FA_desaturaseaa 65–294UCSCFatty acid desaturase

Gene Aliases

HGNC Name

delta 4-desaturase, sphingolipid 2

HGNC Previous Symbol

C14orf66

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_206918.3
p.N189D
c.565A>G
Surrounding Variants
1 paper
NM_206918.3
p.V187L
c.559G>T
1 paper
NM_206918.3
p.V187L
c.559G>C
1 paper
NM_206918.3
p.L175H
c.524T>A
1 paper
NM_206918.3
p.P174L
c.521C>T
1 paper
NM_206918.3
p.R173W
c.517C>T
1 paper
NM_206918.3
p.F217F
c.651C>T
2 papers
NM_206918.3
p.F229F
c.687C>T
1 paper
NM_206918.3
p.E241K
c.721G>A
1 paper
NM_206918.3
p.H132R
c.395A>G
1 paper
NM_206918.3
p.N255S
c.764A>G
1 paper
NM_206918.3
p.N113D
c.337A>G
1 paper
NM_206918.3
p.W107*
c.321G>A
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