Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.K393R

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.K393R
c.1178A>G
Surrounding Variants
5 papers
NM_014009.4
p.K393M
c.1178A>T
1 paper
NM_014009.4
p.C394Y
c.1181G>A
1 paper
NM_014009.4
p.F395L
c.1183T>C
1 paper
NM_014009.4
p.F395L
c.1185T>G
1 paper
NM_014009.4
p.F395L
c.1185T>A
1 paper
NM_014009.4
p.V396L
c.1186G>T
1 paper
NM_014009.4
p.V396L
c.1186G>C
2 papers
NM_014009.4
p.V396E
c.1187T>A
9 papers
NM_014009.4
p.S390N
c.1169G>A
41 papers
NM_014009.4
p.R397W
c.1189C>T
1 paper
NM_014009.4
p.L389P
c.1166T>C
1 paper
NM_014009.4
p.R397L
c.1190G>T
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