Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.P316L

FOXC2

207 papers

RefSeq Summary

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; how...

Pfam Domains

Forkheadaa 71–157UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box C2

HGNC Previous Symbol

FKHL14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005251.3
p.P316L
c.947C>T
Surrounding Variants
2 papers
NM_005251.3
p.C317*
c.951C>A
12 papers
NM_005251.3
p.Q315*
c.943C>T
1 paper
NM_005251.3
p.A318T
c.952G>A
2 papers
NM_005251.3
p.Y313*
c.939C>A
2 papers
NM_005251.3
p.Y313*
c.939C>G
1 paper
NM_005251.3
p.Y313insFs
c.937dupT
1 paper
NM_005251.3
p.E322insFs
c.964_965insG
1 paper
NM_005251.3
p.P310insFs
c.929_930ins7
1 paper
NM_005251.3
p.A325_G328delFs
c.975_984del10
2 papers
NM_005251.3
p.P310_A312insFs
c.930_936dup7
1 paper
NM_005251.3
p.G327R
c.979G>A
1 paper
NM_005251.3
p.G327R
c.979G>C
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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."