Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.L246_V247insFs

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.L246_V247insFs
c.738_739insTG
Surrounding Variants
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
1 paper
NM_014009.4
p.L246L
c.736C>T
2 papers
NM_014009.4
p.Q245_L246Splc
c.736-1G>C
11 papers
NM_014009.4
p.Q245_L246Splc
c.736-1G>A
1 paper
NM_014009.4
p.V247V
c.741G>A
1 paper
NM_014009.4
p.Q245_L246Splc
c.736-2A>T
2 papers
NM_014009.4
p.Q245_L246Splc
c.736-2A>G
4 papers
NM_014009.4
p.Q245_L246Splc
c.736-2A>C
1 paper
NM_014009.4
p.E249K
c.745G>A
2 papers
NM_014009.4
p.K250fs
c.748_749fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."