Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.E185_P186Fs

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.E185_P186Fs
c.554_558delinsGFs
Surrounding Variants
1 paper
NM_005251.3
p.L183L
c.549C>T
1 paper
NM_005251.3
p.P186L
c.557C>T
1 paper
NM_005251.3
p.P187delFs
c.559delC
2 papers
NM_005251.3
p.P188_S191delFs
c.563_573del11
2 papers
NM_005251.3
p.P188fs
c.562_563fs
1 paper
NM_005251.3
p.P188S
c.562C>T
1 paper
NM_005251.3
p.E178*
c.532G>T
1 paper
NM_005251.3
p.E178_A181delins
c.533_542delinsC
2 papers
NM_005251.3
p.P195A
c.583C>G
1 paper
NM_005251.3
p.S174F
c.521C>T
5 papers
NM_005251.3
p.H199insFs
c.595dupC
1 paper
NM_005251.3
p.K171R
c.512A>G
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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."