Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.V272_A273Splc

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
7 papers
NM_014009.4
p.V272_A273Splc
c.816+4A>G
Surrounding Variants
3 papers
NM_014009.4
p.V272_A273Splc
c.816+3G>C
1 paper
NM_014009.4
p.V272_A273Splc
c.816+5G>C
15 papers
NM_014009.4
p.V272_A273Splc
c.816+5G>A
3 papers
NM_014009.4
p.V272_A273Splc
c.816+2T>A
1 paper
NM_014009.4
p.V272_A273Splc
c.816+1G>T
13 papers
NM_014009.4
p.V272_A273Splc
c.816+7G>C
2 papers
NM_014009.4
p.V272V
c.816G>A
2 papers
NM_014009.4
p.L266L
c.798G>C
2 papers
NM_014009.4
p.A265G
c.794C>G
2 papers
NM_014009.4
p.K263R
c.788A>G
1 paper
NM_014009.4
p.A261V
c.782C>T
2 papers
NM_014009.4
p.L260Q
c.779T>A
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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."