Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.R169P

FOXC1

457 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 77–163UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box C1

HGNC Previous Symbols

FKHL7; IRID1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_001453.3
p.R169P
c.506G>C
Surrounding Variants
1 paper
NM_001453.3
p.R169Q
c.506G>A
1 paper
NM_001453.3
p.R169W
c.505C>T
1 paper
NM_001453.3
p.R170fs
c.508_509fs
13 papers
NM_001453.3
p.R170W
c.508C>T
2 papers
NM_001453.3
p.R172_R173ins0
c.516_518dupGCG
4 papers
NM_001453.3
p.R172_R173del1
c.516_518delGCG
2 papers
NM_001453.3
p.R171_R173del0
c.513_518del6
1 paper
NM_001453.3
p.L168fs
c.502_503fs
1 paper
NM_001453.3
p.R171G
c.511C>G
2 papers
NM_001453.3
p.L168_R169del2
c.502_506del6
1 paper
NM_001453.3
p.R171insFs
c.512_513insGC
1 paper
NM_001453.3
p.F167insFs
c.500_501insC
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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."