Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.R127L

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
16 papers
NM_001453.3
p.R127L
c.380G>T
Surrounding Variants
32 papers
NM_001453.3
p.R127H
c.380G>A
6 papers
NM_001453.3
p.R127C
c.379C>T
22 papers
NM_001453.3
p.I126M
c.378C>G
1 paper
NM_001453.3
p.H128Y
c.382C>T
1 paper
NM_001453.3
p.H128P
c.383A>C
10 papers
NM_001453.3
p.H128R
c.383A>G
9 papers
NM_001453.3
p.I126S
c.377T>G
1 paper
NM_001453.3
p.N129fs
c.385_386fs
1 paper
NM_001453.3
p.I126insFs
c.376_377insA
1 paper
NM_001453.3
p.N129T
c.386A>C
1 paper
NM_001453.3
p.S125_I126ins1
c.375_376insGGC
2 papers
NM_001453.3
p.N129K
c.387C>A
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