Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.R95L

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
4 papers
NM_014754.3
p.R95L
c.284G>T
Surrounding Variants
1 paper
NM_014754.3
p.R95Q
c.284G>A
1 paper
NM_014754.3
p.A99insFs
c.296_297insC
1 paper
NM_014754.3
p.A99D
c.296C>A
1 paper
NM_014754.3
p.L100_W101insA
c.298_302ins3
1 paper
NM_014754.3
p.F112V
c.334T>G
1 paper
NM_014754.3
p.L118delFs
c.353_354delTA
1 paper
NM_014754.3
p.F123L
c.367T>C
1 paper
NM_014754.3
p.F123L
c.369C>A
1 paper
NM_014754.3
p.F123L
c.369C>G
1 paper
NM_014754.3
p.S128Y
c.383C>A
1 paper
NM_014754.3
p.L133insFs
c.397_398ins8
1 paper
NM_014754.3
p.D134N
c.400G>A
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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."