Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P431_*432delFs

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
8 papers
NM_014009.4
p.P431_*432delFs
c.1293_1294delAG
Surrounding Variants
1 paper
NM_014009.4
p.G430V
c.1289G>T
1 paper
NM_014009.4
p.N426_P429delFs
c.1276_1286del11
1 paper
NM_014009.4
p.P429L
c.1286C>T
3 papers
NM_014009.4
p.C424_P427del4
c.1270_1280del12
2 papers
NM_014009.4
p.P427insFs
c.1280dupC
2 papers
NM_014009.4
p.P427fs
c.1279_1280fs
3 papers
NM_014009.4
p.P427R
c.1280C>G
2 papers
NM_014009.4
p.C424Fs
c.1270_1272delinsCFs
8 papers
NM_014009.4
p.C424Y
c.1271G>A
1 paper
NM_014009.4
p.C424fs
c.1270_1271fs
1 paper
NM_014009.4
p.S422C
c.1264A>T
2 papers
NM_014009.4
p.E412_R420del0
c.1234_1260del27
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