Varaico: Literature-Extracted Genetic Variants

Gene:PEDS1
Variant:p.H120P

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.H120P
c.359A>C
Surrounding Variants
1 paper
NM_199129.4
p.D138Y
c.412G>T
1 paper
NM_199129.4
p.D138V
c.413A>T
1 paper
NM_199129.4
p.G102G
c.306C>G
1 paper
NM_199129.4
p.V172V
c.516C>A
1 paper
NM_199129.4
p.H222H
c.666C>T
1 paper
NM_199129.4
p.T229N
c.686C>A
1 paper
NM_199129.4
p.R244Q
c.731G>A
1 paper
NM_199129.4
p.R245S
c.733C>A
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