Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.S125_N129delFs

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
1 paper
NM_001453.3
p.S125_N129delFs
c.373_386del14
Surrounding Variants
1 paper
NM_001453.3
p.S125_I126ins1
c.375_376insGGC
1 paper
NM_001453.3
p.I126insFs
c.376_377insA
2 papers
NM_001453.3
p.Q123_N124Fs
c.368_370delinsCFs
14 papers
NM_001453.3
p.Q123*
c.367C>T
2 papers
NM_001453.3
p.Q123fs
c.367_368fs
9 papers
NM_001453.3
p.I126S
c.377T>G
22 papers
NM_001453.3
p.I126M
c.378C>G
2 papers
NM_001453.3
p.W122*
c.366G>A
6 papers
NM_001453.3
p.R127C
c.379C>T
3 papers
NM_001453.3
p.W122*
c.365G>A
2 papers
NM_001453.3
p.W122insFs
c.365_366insCT
32 papers
NM_001453.3
p.R127H
c.380G>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."