Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.D409G

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.D409G
c.1226A>G
Surrounding Variants
2 papers
NM_014009.4
p.D409A
c.1226A>C
1 paper
NM_014009.4
p.D409E
c.1227T>G
1 paper
NM_014009.4
p.D409E
c.1227T>A
1 paper
NM_014009.4
p.T407_V408insFs
c.1221_1222insC
25 papers
NM_014009.4
p.V408M
c.1222G>A
1 paper
NM_014009.4
p.W406C
c.1218G>T
1 paper
NM_014009.4
p.W406C
c.1218G>C
1 paper
NM_014009.4
p.W406*
c.1218G>A
1 paper
NM_014009.4
p.W406*
c.1217G>A
1 paper
NM_014009.4
p.E412D
c.1236G>T
1 paper
NM_014009.4
p.E412D
c.1236G>C
4 papers
NM_014009.4
p.D409_E412del0
c.1227_1235del9
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