Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.H49Y

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.H49Y
c.145C>T
Surrounding Variants
1 paper
NM_001453.3
p.H49_A61del13
c.145_182del39
8 papers
NM_001453.3
p.S48*
c.143C>A
1 paper
NM_001453.3
p.S48L
c.143C>T
2 papers
NM_001453.3
p.P50_H52delFs
c.149_156del8
1 paper
NM_001453.3
p.P50S
c.148C>T
1 paper
NM_001453.3
p.P50fs
c.148_149fs
3 papers
NM_001453.3
p.S48fs
c.142_143fs
7 papers
NM_001453.3
p.Y47*
c.141C>A
8 papers
NM_001453.3
p.Y47*
c.141C>G
1 paper
NM_001453.3
p.Y47C
c.140A>G
1 paper
NM_001453.3
p.Y47F
c.140A>T
4 papers
NM_001453.3
p.A51_Q55delFs
c.153_163del11
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