Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.L265P

PTDSS1

57 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated ...

Pfam Domains

PSSaa 96–372UCSCPhosphatidyl serine synthase

Gene Aliases

HGNC Name

phosphatidylserine synthase 1

HGNC Alias Symbols

KIAA0024; PSSA; PSS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_014754.3
p.L265P
c.794T>C
Surrounding Variants
2 papers
NM_014754.3
p.R262I
c.785G>T
9 papers
NM_014754.3
p.P269S
c.805C>T
3 papers
NM_014754.3
p.P269L
c.806C>T
1 paper
NM_014754.3
p.R276*
c.826C>T
3 papers
NM_014754.3
p.W277R
c.829T>A
3 papers
NM_014754.3
p.W277R
c.829T>C
1 paper
NM_014754.3
p.W277C
c.831G>C
1 paper
NM_014754.3
p.W277C
c.831G>T
1 paper
NM_014754.3
p.D252delFs
c.754delG
1 paper
NM_014754.3
p.S283F
c.848C>T
2 papers
NM_014754.3
p.L292insFs
c.874_875insG
2 papers
NM_014754.3
p.L292P
c.875T>C
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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."