Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.H387Q

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.H387Q
c.1161C>A
Surrounding Variants
4 papers
NM_014009.4
p.N388S
c.1163A>G
9 papers
NM_014009.4
p.R386H
c.1157G>A
1 paper
NM_014009.4
p.L389P
c.1166T>C
1 paper
NM_014009.4
p.R386C
c.1156C>T
9 papers
NM_014009.4
p.S390N
c.1169G>A
1 paper
NM_014009.4
p.I385V
c.1153A>G
1 paper
NM_014009.4
p.I385L
c.1153A>C
73 papers
NM_014009.4
p.A384T
c.1150G>A
2 papers
NM_014009.4
p.N383D
c.1147A>G
5 papers
NM_014009.4
p.K393M
c.1178A>T
1 paper
NM_014009.4
p.K393R
c.1178A>G
1 paper
NM_014009.4
p.C394Y
c.1181G>A
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