Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.E163*

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
4 papers
NM_001453.3
p.E163*
c.487G>T
Surrounding Variants
3 papers
NM_001453.3
p.F162L
c.486C>A
2 papers
NM_001453.3
p.F162L
c.486C>G
1 paper
NM_001453.3
p.E163delFs
c.488_489delAG
1 paper
NM_001453.3
p.F162Y
c.485T>A
3 papers
NM_001453.3
p.F162L
c.484T>C
1 paper
NM_001453.3
p.N164_G165insFs
c.492_493ins4
25 papers
NM_001453.3
p.M161K
c.482T>A
10 papers
NM_001453.3
p.M161V
c.481A>G
3 papers
NM_001453.3
p.M161fs
c.481_482fs
1 paper
NM_001453.3
p.G165S
c.493G>A
15 papers
NM_001453.3
p.G165R
c.493G>C
2 papers
NM_001453.3
p.G165A
c.494G>C
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