Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.I363V

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
24 papers
NM_014009.4
p.I363V
c.1087A>G
Surrounding Variants
2 papers
NM_014009.4
p.I363T
c.1088T>C
1 paper
NM_014009.4
p.E362V
c.1085A>T
1 paper
NM_014009.4
p.Y364_H365insG
c.1090_1094ins3
2 papers
NM_014009.4
p.N361K
c.1083T>G
2 papers
NM_014009.4
p.N361K
c.1083T>A
1 paper
NM_014009.4
p.Y364F
c.1091A>T
3 papers
NM_014009.4
p.Y364C
c.1091A>G
5 papers
NM_014009.4
p.N361S
c.1082A>G
1 paper
NM_014009.4
p.H365N
c.1093C>A
4 papers
NM_014009.4
p.L360_N361insFs
c.1080_1081insA
1 paper
NM_014009.4
p.L360P
c.1079T>C
1 paper
NM_014009.4
p.L360F
c.1078C>T
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."