Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.M336L

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.M336L
c.1006A>C
Surrounding Variants
1 paper
NM_005251.3
p.M336L
c.1006A>T
1 paper
NM_005251.3
p.M336insFs
c.1006_1007insA
1 paper
NM_005251.3
p.M336insFs
c.1007_1008insA
1 paper
NM_005251.3
p.Y339*
c.1017C>A
1 paper
NM_005251.3
p.Y339*
c.1017C>G
1 paper
NM_005251.3
p.T340S
c.1019C>G
2 papers
NM_005251.3
p.Q330*
c.988C>T
1 paper
NM_005251.3
p.A342T
c.1024G>A
4 papers
NM_005251.3
p.E343*
c.1027G>T
1 paper
NM_005251.3
p.G327R
c.979G>A
1 paper
NM_005251.3
p.G327R
c.979G>C
1 paper
NM_005251.3
p.A325_G328delFs
c.975_984del10
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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."