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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTDSS2

Variant:p.G115G

PTDSS2

11p15.5 (UCSC)OMIM GTEx

41 papers

RefSeq Summary

The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and...

Pfam Domains

PSSaa 120–400UCSCPhosphatidyl serine synthase

Gene Aliases

HGNC Name

phosphatidylserine synthase 2

HGNC Alias Symbol

PSS2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:473955 G>A

NM_030783.3

p.G115G

c.345G>A

exact variant not in gnomAD8 overlapping SVs

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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."