Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.R369C

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.R369C
c.1105C>T
Surrounding Variants
3 papers
NM_014009.4
p.R369H
c.1106G>A
1 paper
NM_014009.4
p.T368delFs
c.1103delG
3 papers
NM_014009.4
p.M370L
c.1108A>T
2 papers
NM_014009.4
p.M370V
c.1108A>G
3 papers
NM_014009.4
p.M370L
c.1108A>C
1 paper
NM_014009.4
p.T368insFs
c.1102_1103insC
3 papers
NM_014009.4
p.M370T
c.1109T>C
1 paper
NM_014009.4
p.M370K
c.1109T>A
15 papers
NM_014009.4
p.F367L
c.1101C>G
12 papers
NM_014009.4
p.F367L
c.1101C>A
9 papers
NM_014009.4
p.F367C
c.1100T>G
16 papers
NM_014009.4
p.M370I
c.1110G>T
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