Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3

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
1–12 of 513 variants
73 papers
NM_014009.4
p.A384T
c.1150G>A
46 papers
NM_014009.4
p.R347H
c.1040G>A
41 papers
NM_014009.4
p.R397W
c.1189C>T
32 papers
NM_014009.4
p.R337Q
c.1010G>A
25 papers
NM_014009.4
p.F371C
c.1112T>G
25 papers
NM_014009.4
p.V408M
c.1222G>A
24 papers
NM_014009.4
p.L76delFs
c.227delA
24 papers
NM_014009.4
p.E251del1
c.751_753delCTC
24 papers
NM_014009.4
p.I363V
c.1087A>G
24 papers
NM_014009.4
p.R397Q
c.1190G>A
19 papers
NM_014009.4
p.M370I
c.1110G>A
18 papers
NM_014009.4
p.F374C
c.1121T>G
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."