Varaico: Literature-Extracted Genetic Variants

Gene:FOXP3
Variant:p.L76delFs

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
24 papers
NM_014009.4
p.L76delFs
c.227delA
Surrounding Variants
1 paper
NM_014009.4
p.V77I
c.229G>A
1 paper
NM_014009.4
p.L76del1
c.226_228delTAG
1 paper
NM_014009.4
p.V77A
c.230T>C
3 papers
NM_014009.4
p.L76fs
c.226_227fs
2 papers
NM_014009.4
p.M78fs
c.232_233fs
4 papers
NM_014009.4
p.P75L
c.224C>T
1 paper
NM_014009.4
p.P75S
c.223C>T
2 papers
NM_014009.4
p.M78delFs
c.232_233delAT
1 paper
NM_014009.4
p.V79A
c.236T>C
1 paper
NM_014009.4
p.A80T
c.238G>A
1 paper
NM_014009.4
p.T73I
c.218C>T
2 papers
NM_014009.4
p.A80fs
c.238_239fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."