Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.P220H

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.P220H
c.659C>A
Surrounding Variants
4 papers
NM_001453.3
p.R222_K227delFs
c.666_681del16
3 papers
NM_001453.3
p.I223fs
c.667_668fs
1 paper
NM_001453.3
p.Q217K
c.649C>A
1 paper
NM_001453.3
p.I223_Q224insFs
c.669_670ins8
1 paper
NM_001453.3
p.Q217*
c.649C>T
1 paper
NM_001453.3
p.Q224Q
c.672G>A
1 paper
NM_001453.3
p.D225Y
c.673G>T
1 paper
NM_001453.3
p.G215V
c.644G>T
1 paper
NM_001453.3
p.A213P
c.637G>C
7 papers
NM_001453.3
p.E229K
c.685G>A
1 paper
NM_001453.3
p.G211D
c.632G>A
1 paper
NM_001453.3
p.G211insFs
c.632_633dupGC
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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."