Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.M328I

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
3 papers
NM_014009.4
p.M328I
c.984G>A
Surrounding Variants
3 papers
NM_014009.4
p.M328I
c.984G>T
3 papers
NM_014009.4
p.M328I
c.984G>C
2 papers
NM_014009.4
p.D329V
c.986A>T
2 papers
NM_014009.4
p.Y330H
c.988T>C
1 paper
NM_014009.4
p.Y330F
c.989A>T
5 papers
NM_014009.4
p.Y330C
c.989A>G
2 papers
NM_014009.4
p.H326R
c.977A>G
2 papers
NM_014009.4
p.K332E
c.994A>G
1 paper
NM_014009.4
p.L325F
c.973C>T
2 papers
NM_014009.4
p.K332R
c.995A>G
2 papers
NM_014009.4
p.F324F
c.972C>T
14 papers
NM_014009.4
p.F324L
c.972C>G
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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."