Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.K416I

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
2 papers
NM_014009.4
p.K416I
c.1247A>T
Surrounding Variants
1 paper
NM_014009.4
p.K416R
c.1247A>G
1 paper
NM_014009.4
p.K416N
c.1248A>T
1 paper
NM_014009.4
p.K416N
c.1248A>C
2 papers
NM_014009.4
p.R417W
c.1249C>T
1 paper
NM_014009.4
p.K415R
c.1244A>G
1 paper
NM_014009.4
p.S418C
c.1252A>T
1 paper
NM_014009.4
p.S418G
c.1252A>G
1 paper
NM_014009.4
p.R414H
c.1241G>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
2 papers
NM_014009.4
p.E412_R420del0
c.1234_1260del27
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