Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.A343T

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.A343T
c.1027G>A
Surrounding Variants
1 paper
NM_014009.4
p.A343P
c.1027G>C
2 papers
NM_014009.4
p.Y342F
c.1025A>T
1 paper
NM_014009.4
p.Y342C
c.1025A>G
3 papers
NM_014009.4
p.T344M
c.1031C>T
2 papers
NM_014009.4
p.T344K
c.1031C>A
1 paper
NM_014009.4
p.T341T
c.1023C>A
1 paper
NM_014009.4
p.T344delFs
c.1031delG
2 papers
NM_014009.4
p.T341S
c.1022C>G
1 paper
NM_014009.4
p.T341N
c.1022C>A
6 papers
NM_014009.4
p.L345F
c.1033C>T
1 paper
NM_014009.4
p.T344insFs
c.1032dupG
2 papers
NM_014009.4
p.T341S
c.1021A>T
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