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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEGS2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 22 variants

3 papers

chr14:100159565 C>T

NM_206918.3

p.S8N

c.23G>A

Lipid_DES

Exome: 71.6% (AC=964931, hom=346401)Genome: 75.6% (AC=114895, hom=43764)6 overlapping SVs

2 papers

chr14:100149228 T>C

NM_206918.3

p.N189D

c.565A>G

FA_desaturase

exact variant not in gnomAD5 overlapping SVs

2 papers

chr14:100149106 G>A

NM_206918.3

p.F229F

c.687C>T

FA_desaturase

Exome: 0.0% (AC=211, hom=0)Genome: 0.0% (AC=23, hom=0)5 overlapping SVs

1 paper

chr14:100149624 C>T

NM_206918.3

p.A57T

c.169G>A

Exome: 15.7% (AC=229749, hom=18366)Genome: 13.9% (AC=21180, hom=1588)5 overlapping SVs

1 paper

chr14:100149570 C>T

NM_206918.3

p.A75T

c.223G>A

FA_desaturase

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)5 overlapping SVs

1 paper

chr14:100149545 G>A

NM_206918.3

p.S83L

c.248C>T

FA_desaturase

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)5 overlapping SVs

1 paper

chr14:100149517 C>T

NM_206918.3

p.S92S

c.276G>A

FA_desaturase

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)5 overlapping SVs

1 paper

chr14:100149473 C>T

NM_206918.3

p.W107*

c.320G>A

FA_desaturase

Exome: 0.0% (AC=2, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr14:100149472 C>T

NM_206918.3

p.W107*

c.321G>A

FA_desaturase

exact variant not in gnomAD5 overlapping SVs

1 paper

chr14:100149456 T>C

NM_206918.3

p.N113D

c.337A>G

FA_desaturase

exact variant not in gnomAD5 overlapping SVs

1 paper

chr14:100149398 T>C

NM_206918.3

p.H132R

c.395A>G

FA_desaturase

exact variant not in gnomAD5 overlapping SVs

1 paper

chr14:100149276 G>A

NM_206918.3

p.R173W

c.517C>T

FA_desaturase

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)5 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."