Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.H259R

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
1 paper
NM_014009.4
p.H259R
c.776A>G
Surrounding Variants
2 papers
NM_014009.4
p.L260Q
c.779T>A
1 paper
NM_014009.4
p.A261V
c.782C>T
1 paper
NM_014009.4
p.Q257P
c.770A>C
3 papers
NM_014009.4
p.Q257*
c.769C>T
4 papers
NM_014009.4
p.M256T
c.767T>C
4 papers
NM_014009.4
p.M256V
c.766A>G
2 papers
NM_014009.4
p.K263R
c.788A>G
4 papers
NM_014009.4
p.L253P
c.758T>C
2 papers
NM_014009.4
p.A265G
c.794C>G
1 paper
NM_014009.4
p.K252R
c.755A>G
2 papers
NM_014009.4
p.L266L
c.798G>C
24 papers
NM_014009.4
p.E251del1
c.751_753delCTC
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."