Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.P378A

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.P378A
c.1132C>G
Surrounding Variants
1 paper
NM_014009.4
p.P378_A379ins3
c.1134_1135ins9
3 papers
NM_014009.4
p.A379T
c.1135G>A
4 papers
NM_014009.4
p.H377D
c.1129C>G
1 paper
NM_014009.4
p.H377N
c.1129C>A
3 papers
NM_014009.4
p.T380I
c.1139C>T
2 papers
NM_014009.4
p.F374del1
c.1120_1122delGAA
18 papers
NM_014009.4
p.F374C
c.1121T>G
1 paper
NM_014009.4
p.F373delFs
c.1117_1118delAA
2 papers
NM_014009.4
p.K382R
c.1145A>G
2 papers
NM_014009.4
p.F373S
c.1118T>C
2 papers
NM_014009.4
p.F373delins
c.1117_1118delinsGC
12 papers
NM_014009.4
p.F373V
c.1117T>G
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