Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.S340S

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.S340S
c.1020G>T
Surrounding Variants
1 paper
NM_001453.3
p.S340*
c.1019C>A
1 paper
NM_001453.3
p.R341G
c.1021C>G
2 papers
NM_001453.3
p.A342V
c.1025C>T
2 papers
NM_001453.3
p.A338fs
c.1012_1013fs
1 paper
NM_001453.3
p.I344T
c.1031T>C
1 paper
NM_001453.3
p.A345_P355del11
c.1033_1064del33
3 papers
NM_001453.3
p.A337_A338insFs
c.1009_1012dup4
1 paper
NM_001453.3
p.P347A
c.1039C>G
1 paper
NM_001453.3
p.G331_L332insG
c.991_995ins3
1 paper
NM_001453.3
p.G351insFs
c.1051dupG
1 paper
NM_001453.3
p.S330F
c.989C>T
2 papers
NM_001453.3
p.G351_A352insFs
c.1053_1056dup4
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