Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.N118D

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.N118D
c.352A>G
Surrounding Variants
1 paper
NM_001453.3
p.N118delFs
c.354delC
1 paper
NM_001453.3
p.N118_K119delFs
c.353_356del4
4 papers
NM_001453.3
p.K119delFs
c.356delA
5 papers
NM_001453.3
p.D117fs
c.349_350fs
2 papers
NM_001453.3
p.K119R
c.356A>G
1 paper
NM_001453.3
p.R116L
c.347G>T
10 papers
NM_001453.3
p.Q120*
c.358C>T
4 papers
NM_001453.3
p.D117delFs
c.349delG
8 papers
NM_001453.3
p.Y115S
c.344A>C
2 papers
NM_001453.3
p.Y115C
c.344A>G
2 papers
NM_001453.3
p.G121S
c.361G>A
2 papers
NM_001453.3
p.Y115H
c.343T>C
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