Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.A84A

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.A84A
c.252A>G
Surrounding Variants
1 paper
NM_014009.4
p.A84T
c.250G>A
1 paper
NM_014009.4
p.A80_S82ins1
c.239_244dup6
1 paper
NM_014009.4
p.P81insFs
c.242dupC
1 paper
NM_014009.4
p.S82A
c.244T>G
1 paper
NM_014009.4
p.G87D
c.260G>A
2 papers
NM_014009.4
p.A80delFs
c.239delG
3 papers
NM_014009.4
p.P88delFs
c.264delG
1 paper
NM_014009.4
p.L89fs
c.265_266fs
1 paper
NM_014009.4
p.L89S
c.266T>C
1 paper
NM_014009.4
p.A80T
c.238G>A
2 papers
NM_014009.4
p.A80fs
c.238_239fs
1 paper
NM_014009.4
p.V79A
c.236T>C
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