Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS2
Variant:p.G257D

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.G257D
c.770G>A
Surrounding Variants
4 papers
NM_030783.3
p.V250M
c.748G>A
2 papers
NM_030783.3
p.E266K
c.796G>A
1 paper
NM_030783.3
p.P282P
c.846G>A
1 paper
NM_030783.3
p.C241F
c.722G>T
1 paper
NM_030783.3
p.E240K
c.718G>A
1 paper
NM_030783.3
p.R212*
c.634C>T
1 paper
NM_030783.3
p.S309F
c.926C>T
1 paper
NM_030783.3
p.G319S
c.955G>A
1 paper
NM_030783.3
p.V323M
c.967G>A
1 paper
NM_030783.3
p.F332L
c.994T>C
1 paper
NM_030783.3
p.F332L
c.996C>A
1 paper
NM_030783.3
p.F332L
c.996C>G
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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."