Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.N129T

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.N129T
c.386A>C
Surrounding Variants
1 paper
NM_001453.3
p.N129fs
c.385_386fs
2 papers
NM_001453.3
p.N129K
c.387C>A
2 papers
NM_001453.3
p.N129K
c.387C>G
19 papers
NM_001453.3
p.L130F
c.388C>T
1 paper
NM_001453.3
p.H128P
c.383A>C
10 papers
NM_001453.3
p.H128R
c.383A>G
1 paper
NM_001453.3
p.H128Y
c.382C>T
7 papers
NM_001453.3
p.S131*
c.392C>A
9 papers
NM_001453.3
p.S131W
c.392C>G
29 papers
NM_001453.3
p.S131L
c.392C>T
32 papers
NM_001453.3
p.R127H
c.380G>A
16 papers
NM_001453.3
p.R127L
c.380G>T
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