Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F324L

FOXP3

634 papers

RefSeq Summary

The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, ...

Pfam Domains

FOXP-CCaa 193–261UCSCFOXP coiled-coil domain
Forkheadaa 336–418UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box P3

HGNC Previous Symbol

IPEX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_014009.4
p.F324L
c.972C>A
Surrounding Variants
2 papers
NM_014009.4
p.F324F
c.972C>T
14 papers
NM_014009.4
p.F324L
c.972C>G
1 paper
NM_014009.4
p.L325F
c.973C>T
17 papers
NM_014009.4
p.F324L
c.970T>C
1 paper
NM_014009.4
p.E323D
c.969G>T
1 paper
NM_014009.4
p.E323D
c.969G>C
1 paper
NM_014009.4
p.E323Splc
c.968-1G>C
5 papers
NM_014009.4
p.E323K
c.967G>A
2 papers
NM_014009.4
p.H326R
c.977A>G
3 papers
NM_014009.4
p.M328I
c.984G>T
3 papers
NM_014009.4
p.M328I
c.984G>C
3 papers
NM_014009.4
p.M328I
c.984G>A
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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."