Varaico: Literature-Extracted Genetic Variants

Gene:FOXC2
Variant:p.W116R

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
3 papers
NM_005251.3
p.W116R
c.346T>A
Surrounding Variants
3 papers
NM_005251.3
p.W116R
c.346T>C
2 papers
NM_005251.3
p.W116*
c.347G>A
2 papers
NM_005251.3
p.W116*
c.348G>A
1 paper
NM_005251.3
p.Q117*
c.349C>T
3 papers
NM_005251.3
p.N118K
c.354C>A
3 papers
NM_005251.3
p.N118K
c.354C>G
1 paper
NM_005251.3
p.N118N
c.354C>T
1 paper
NM_005251.3
p.E111D
c.333G>C
1 paper
NM_005251.3
p.E111D
c.333G>T
11 papers
NM_005251.3
p.R121C
c.361C>T
1 paper
NM_005251.3
p.E111*
c.331G>T
16 papers
NM_005251.3
p.R121H
c.362G>A
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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."