Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.F371L

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
2 papers
NM_014009.4
p.F371L
c.1113T>A
Surrounding Variants
9 papers
NM_014009.4
p.F371L
c.1113T>G
25 papers
NM_014009.4
p.F371C
c.1112T>G
1 paper
NM_014009.4
p.A372S
c.1114G>T
4 papers
NM_014009.4
p.A372P
c.1114G>C
1 paper
NM_014009.4
p.A372T
c.1114G>A
1 paper
NM_014009.4
p.F371V
c.1111T>G
2 papers
NM_014009.4
p.F371L
c.1111T>C
1 paper
NM_014009.4
p.A372G
c.1115C>G
16 papers
NM_014009.4
p.M370I
c.1110G>T
16 papers
NM_014009.4
p.M370I
c.1110G>C
19 papers
NM_014009.4
p.M370I
c.1110G>A
12 papers
NM_014009.4
p.F373V
c.1117T>G
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