Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS2
Variant:p.F332L

PTDSS2

41 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and...

Pfam Domains

PSSaa 120–400UCSCPhosphatidyl serine synthase

Gene Aliases

HGNC Name

phosphatidylserine synthase 2

HGNC Alias Symbol

PSS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030783.3
p.F332L
c.994T>C
Surrounding Variants
1 paper
NM_030783.3
p.F332L
c.996C>A
1 paper
NM_030783.3
p.F332L
c.996C>G
1 paper
NM_030783.3
p.P342L
c.1025C>T
1 paper
NM_030783.3
p.R350W
c.1048C>T
1 paper
NM_030783.3
p.R363H
c.1088G>A
1 paper
NM_030783.3
p.V323M
c.967G>A
1 paper
NM_030783.3
p.Y366Y
c.1098C>T
1 paper
NM_030783.3
p.G319S
c.955G>A
1 paper
NM_030783.3
p.S309F
c.926C>T
1 paper
NM_030783.3
p.P380delFs
c.1139_1140delCG
1 paper
NM_030783.3
p.H402delFs
c.1204delC
1 paper
NM_030783.3
p.H402fs
c.1204_1205fs
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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."