Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.Y364C

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.Y364C
c.1091A>G
Surrounding Variants
1 paper
NM_014009.4
p.Y364F
c.1091A>T
1 paper
NM_014009.4
p.Y364_H365insG
c.1090_1094ins3
1 paper
NM_014009.4
p.H365N
c.1093C>A
2 papers
NM_014009.4
p.I363T
c.1088T>C
24 papers
NM_014009.4
p.I363V
c.1087A>G
1 paper
NM_014009.4
p.E362V
c.1085A>T
1 paper
NM_014009.4
p.W366C
c.1098G>T
1 paper
NM_014009.4
p.W366C
c.1098G>C
2 papers
NM_014009.4
p.N361K
c.1083T>G
1 paper
NM_014009.4
p.F367V
c.1099T>G
15 papers
NM_014009.4
p.F367L
c.1099T>C
2 papers
NM_014009.4
p.N361K
c.1083T>A
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