Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.E352insFs

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
1 paper
NM_014009.4
p.E352insFs
c.1054dupG
Surrounding Variants
1 paper
NM_014009.4
p.A353T
c.1057G>A
1 paper
NM_014009.4
p.P354L
c.1061C>T
3 papers
NM_014009.4
p.P354Q
c.1061C>A
5 papers
NM_014009.4
p.P354delFs
c.1061delG
1 paper
NM_014009.4
p.E355Q
c.1063G>C
1 paper
NM_014009.4
p.A349S
c.1045G>T
4 papers
NM_014009.4
p.A349T
c.1045G>A
3 papers
NM_014009.4
p.W348_A349Splc
c.1045-3C>G
1 paper
NM_014009.4
p.R358G
c.1072C>G
3 papers
NM_014009.4
p.R358Q
c.1073G>A
2 papers
NM_014009.4
p.T359I
c.1076C>T
1 paper
NM_014009.4
p.L360F
c.1078C>T
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