Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.K144*

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
2 papers
NM_001453.3
p.K144*
c.430A>T
Surrounding Variants
7 papers
NM_001453.3
p.D143E
c.429C>G
2 papers
NM_001453.3
p.K145del1
c.433_435delAAG
1 paper
NM_001453.3
p.K145_K148delFs
c.434_443del10
1 paper
NM_001453.3
p.K145*
c.433A>T
5 papers
NM_001453.3
p.P146_Y151delFs
c.437_453del17
2 papers
NM_001453.3
p.P146fs
c.436_437fs
4 papers
NM_001453.3
p.P146fs
c.436_437fs
1 paper
NM_001453.3
p.K148R
c.443A>G
1 paper
NM_001453.3
p.G149_S150ins1
c.447_448insGGC
1 paper
NM_001453.3
p.V139L
c.415G>C
1 paper
NM_001453.3
p.G149delFs
c.446_447delGC
13 papers
NM_001453.3
p.G149D
c.446G>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."