Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.D344N

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
1 paper
NM_014754.3
p.D344N
c.1030G>A
Surrounding Variants
2 papers
NM_014754.3
p.K348_R349insFs
c.1044_1045insC
1 paper
NM_014754.3
p.R349L
c.1046G>T
1 paper
NM_014754.3
p.Q353_C354del2
c.1057_1061del6
1 paper
NM_014754.3
p.Q353insFs
c.1058_1059insC
11 papers
NM_014754.3
p.Q353R
c.1058A>G
1 paper
NM_014754.3
p.T334delFs
c.1002delA
1 paper
NM_014754.3
p.E301A
c.902A>C
1 paper
NM_014754.3
p.I296I
c.888C>A
1 paper
NM_014754.3
p.I296_W297insC
c.886_890ins3
2 papers
NM_014754.3
p.L292P
c.875T>C
2 papers
NM_014754.3
p.L292insFs
c.874_875insG
1 paper
NM_014754.3
p.S283F
c.848C>T
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