Varaico: Literature-Extracted Genetic Variants

Gene:FOXC1
Variant:p.K74E

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.K74E
c.220A>G
Surrounding Variants
2 papers
NM_001453.3
p.D75N
c.223G>A
1 paper
NM_001453.3
p.D75_M76insFs
c.225_226insAC
1 paper
NM_001453.3
p.M76_T88del13
c.226_263del39
2 papers
NM_001453.3
p.V77M
c.229G>A
2 papers
NM_001453.3
p.V77L
c.229G>C
2 papers
NM_001453.3
p.V77L
c.229G>T
1 paper
NM_001453.3
p.Q70P
c.209A>C
2 papers
NM_001453.3
p.Q70R
c.209A>G
8 papers
NM_001453.3
p.Q70delFs
c.210delG
2 papers
NM_001453.3
p.Q70fs
c.208_209fs
5 papers
NM_001453.3
p.Q70fs
c.208_209fs
19 papers
NM_001453.3
p.P79T
c.235C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."