Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.L428R

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.L428R
c.1283T>G
Surrounding Variants
1 paper
NM_001453.3
p.D426A
c.1277A>C
1 paper
NM_001453.3
p.D430E
c.1290C>A
1 paper
NM_001453.3
p.D430E
c.1290C>G
1 paper
NM_001453.3
p.L433delFs
c.1297_1298delCT
1 paper
NM_001453.3
p.L433_P435del3
c.1297_1304del9
1 paper
NM_001453.3
p.L433fs
c.1297_1298fs
1 paper
NM_001453.3
p.L433L
c.1299G>A
1 paper
NM_001453.3
p.A423S
c.1267G>T
1 paper
NM_001453.3
p.P434_S443del10
c.1300_1328del30
5 papers
NM_001453.3
p.S422*
c.1265C>A
1 paper
NM_001453.3
p.P434L
c.1301C>T
2 papers
NM_001453.3
p.P435R
c.1304C>G
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