Varaico: Literature-Extracted Genetic Variants

Gene:PTDSS1
Variant:p.E200A

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
5 papers
NM_014754.3
p.E200A
c.599A>C
Surrounding Variants
1 paper
NM_014754.3
p.E200delFs
c.600delG
3 papers
NM_014754.3
p.E197A
c.590A>C
1 paper
NM_014754.3
p.M178delFs
c.534delG
1 paper
NM_014754.3
p.A177D
c.530C>A
2 papers
NM_014754.3
p.D166A
c.497A>C
1 paper
NM_014754.3
p.E159*
c.475G>T
1 paper
NM_014754.3
p.V155V
c.465G>A
1 paper
NM_014754.3
p.V151V
c.453G>T
3 papers
NM_014754.3
p.E212A
c.635A>C
2 papers
NM_014754.3
p.D216A
c.647A>C
3 papers
NM_014754.3
p.D221A
c.662A>C
1 paper
NM_014754.3
p.V236_R238del0
c.708_713del6
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."