Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.K250del1

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
13 papers
NM_014009.4
p.K250del1
c.748_749delCTT
Surrounding Variants
3 papers
NM_014009.4
p.K250delFs
c.749delT
1 paper
NM_014009.4
p.K250R
c.749A>G
2 papers
NM_014009.4
p.K250fs
c.748_749fs
24 papers
NM_014009.4
p.E251del1
c.751_753delCTC
1 paper
NM_014009.4
p.K252R
c.755A>G
1 paper
NM_014009.4
p.E249K
c.745G>A
4 papers
NM_014009.4
p.L253P
c.758T>C
1 paper
NM_014009.4
p.V247V
c.741G>A
1 paper
NM_014009.4
p.L246_V247insFs
c.738_739insTG
1 paper
NM_014009.4
p.L246fs
c.736_737fs
4 papers
NM_014009.4
p.L246P
c.737T>C
1 paper
NM_014009.4
p.L246Q
c.737T>A
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