Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.T344M

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
3 papers
NM_014009.4
p.T344M
c.1031C>T
Surrounding Variants
2 papers
NM_014009.4
p.T344K
c.1031C>A
1 paper
NM_014009.4
p.T344delFs
c.1031delG
6 papers
NM_014009.4
p.L345F
c.1033C>T
1 paper
NM_014009.4
p.T344insFs
c.1032dupG
1 paper
NM_014009.4
p.A343P
c.1027G>C
2 papers
NM_014009.4
p.A343T
c.1027G>A
1 paper
NM_014009.4
p.I346F
c.1036A>T
3 papers
NM_014009.4
p.I346V
c.1036A>G
7 papers
NM_014009.4
p.I346T
c.1037T>C
2 papers
NM_014009.4
p.Y342F
c.1025A>T
1 paper
NM_014009.4
p.Y342C
c.1025A>G
1 paper
NM_014009.4
p.I346M
c.1038C>G
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