Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.S400R

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
3 papers
NM_014009.4
p.S400R
c.1200C>G
Surrounding Variants
3 papers
NM_014009.4
p.S400R
c.1200C>A
1 paper
NM_014009.4
p.E401K
c.1201G>A
1 paper
NM_014009.4
p.E401V
c.1202A>T
3 papers
NM_014009.4
p.S400R
c.1198A>C
1 paper
NM_014009.4
p.E399Q
c.1195G>C
2 papers
NM_014009.4
p.R397_V398insFs
c.1191_1192insG
2 papers
NM_014009.4
p.V398E
c.1193T>A
1 paper
NM_014009.4
p.G403W
c.1207G>T
1 paper
NM_014009.4
p.G403R
c.1207G>C
1 paper
NM_014009.4
p.G403R
c.1207G>A
1 paper
NM_014009.4
p.G403V
c.1208G>T
1 paper
NM_014009.4
p.R397L
c.1190G>T
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