Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.R337Q

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
32 papers
NM_014009.4
p.R337Q
c.1010G>A
Surrounding Variants
5 papers
NM_014009.4
p.R337P
c.1010G>C
8 papers
NM_014009.4
p.R337*
c.1009C>T
4 papers
NM_014009.4
p.P339S
c.1015C>T
16 papers
NM_014009.4
p.P339A
c.1015C>G
1 paper
NM_014009.4
p.P339T
c.1015C>A
2 papers
NM_014009.4
p.N335H
c.1003A>C
2 papers
NM_014009.4
p.H334D
c.1000C>G
2 papers
NM_014009.4
p.T341S
c.1021A>T
1 paper
NM_014009.4
p.T341A
c.1021A>G
2 papers
NM_014009.4
p.T341S
c.1022C>G
1 paper
NM_014009.4
p.T341N
c.1022C>A
2 papers
NM_014009.4
p.F333I
c.997T>A
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