Varaico: Literature-Extracted Genetic Variants

Gene:PEDS1
Variant:p.F54F

PEDS1

17 papers

RefSeq Summary

Co-transcription of this gene and the neighboring downstream gene (ubiquitin-conjugating enzyme E2 variant 1) generates a rare read-through transcript, which encodes a fusion protein comprised of sequ...

Gene Aliases

HGNC Name

plasmanylethanolamine desaturase 1

HGNC Previous Symbol

TMEM189

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_199129.4
p.F54F
c.162C>T
Surrounding Variants
1 paper
NM_199129.4
p.E71K
c.211G>A
1 paper
NM_199129.4
p.A35fs
c.103_104fs
1 paper
NM_199129.4
p.A35delFs
c.104delG
1 paper
NM_199129.4
p.A35fs
c.103_104fs
1 paper
NM_199129.4
p.C21fs
c.61_62fs
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