Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.H101Y

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.H101Y
c.301C>T
Surrounding Variants
1 paper
NM_014009.4
p.H101R
c.302A>G
2 papers
NM_014009.4
p.F102fs
c.304_305fs
1 paper
NM_014009.4
p.F102S
c.305T>C
3 papers
NM_014009.4
p.F102fs
c.304_305fs
5 papers
NM_014009.4
p.F102delFs
c.305delA
9 papers
NM_014009.4
p.H101_F102delFs
c.303_304delAA
1 paper
NM_014009.4
p.F102insFs
c.306dupC
1 paper
NM_014009.4
p.D98H
c.292G>C
1 paper
NM_014009.4
p.L96P
c.287T>C
1 paper
NM_014009.4
p.L95L
c.285C>A
1 paper
NM_014009.4
p.A94insFs
c.282dupA
1 paper
NM_014009.4
p.P88_H91del0
c.262_273del12
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