Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPSD1

Variant:p.L2I

Back to variants list

TPSD1

NM_012217.3:p.L2I

hg38:chr16:1256284 C>A

Associated Papers

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria.

Kristjansson RP et al.

Communications Biology, 2023

37430141 (PubMed )

Supplement: 42003_2023_5079_MOESM1_ESM.pdf

Select a paper to view details

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."