Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1

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
1–12 of 88 variants
11 papers
NM_014754.3
p.Q353R
c.1058A>G
9 papers
NM_014754.3
p.P269S
c.805C>T
8 papers
NM_014754.3
p.L265P
c.794T>C
5 papers
NM_014754.3
p.E200A
c.599A>C
4 papers
NM_014754.3
p.R95L
c.284G>T
3 papers
NM_014754.3
p.E197A
c.590A>C
3 papers
NM_014754.3
p.E212A
c.635A>C
3 papers
NM_014754.3
p.D221A
c.662A>C
3 papers
NM_014754.3
p.P269L
c.806C>T
3 papers
NM_014754.3
p.W277R
c.829T>A
3 papers
NM_014754.3
p.W277R
c.829T>C
2 papers
NM_014754.3
p.L53R
c.158T>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."