Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC5A11

Variant:p.S172F

Back to variants list

SLC5A11

NM_001352248.3:p.S172F

hg38:chr16:24877295 C>T

Associated Papers

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

30315159 (PubMed )

Supplement: 41467_2018_6713_MOESM5_ESM.xlsx › Supplementary_Data_2

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."