Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.M256T

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
4 papers
NM_014009.4
p.M256T
c.767T>C
Surrounding Variants
4 papers
NM_014009.4
p.M256V
c.766A>G
3 papers
NM_014009.4
p.Q257*
c.769C>T
1 paper
NM_014009.4
p.Q257P
c.770A>C
4 papers
NM_014009.4
p.L253P
c.758T>C
1 paper
NM_014009.4
p.H259R
c.776A>G
2 papers
NM_014009.4
p.L260Q
c.779T>A
1 paper
NM_014009.4
p.K252R
c.755A>G
24 papers
NM_014009.4
p.E251del1
c.751_753delCTC
1 paper
NM_014009.4
p.A261V
c.782C>T
13 papers
NM_014009.4
p.K250del1
c.748_749delCTT
3 papers
NM_014009.4
p.K250delFs
c.749delT
1 paper
NM_014009.4
p.K250R
c.749A>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."