Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
FOXP3
Variant:
p.Q70_L71Splc
Back to variants list
FOXP3
NM_014009.4:p.Q70_L71Splc
hg38:chrX:49257769 C>T
Frequencies & domains
Associated Papers
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.
Bennett CL et al.
Immunogenetics,
2001
11685453 (PubMed
)
Select a paper to view details