Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.C135*

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
2 papers
NM_001453.3
p.C135*
c.405C>A
Surrounding Variants
8 papers
NM_001453.3
p.C135Y
c.404G>A
1 paper
NM_001453.3
p.F136L
c.406T>C
7 papers
NM_001453.3
p.V137del1
c.409_410delGTC
1 paper
NM_001453.3
p.C135S
c.403T>A
1 paper
NM_001453.3
p.F136L
c.408C>A
1 paper
NM_001453.3
p.F136L
c.408C>G
2 papers
NM_001453.3
p.E134E
c.402G>A
1 paper
NM_001453.3
p.V137I
c.409G>A
2 papers
NM_001453.3
p.N133K
c.399C>A
1 paper
NM_001453.3
p.K138insFs
c.412dupA
2 papers
NM_001453.3
p.N133K
c.399C>G
8 papers
NM_001453.3
p.K138E
c.412A>G
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