Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Y218C

FOXG1

445 papers

RefSeq Summary

This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain develo...

Pfam Domains

Forkheadaa 180–266UCSCForkhead domain

Gene Aliases

HGNC Name

forkhead box G1

HGNC Previous Symbols

FKHL2; FOXG1B; FKHL4; FKH2; FKHL1; FOXG1C; FKHL3; FOXG1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005249.5
p.Y218C
c.653A>G
Surrounding Variants
3 papers
NM_005249.5
p.Y218S
c.653A>C
1 paper
NM_005249.5
p.Y218delFs
c.654delC
6 papers
NM_005249.5
p.Y217*
c.651C>A
7 papers
NM_005249.5
p.Y217*
c.651C>G
3 papers
NM_005249.5
p.R219G
c.655C>G
1 paper
NM_005249.5
p.Y217fs
c.649_650fs
1 paper
NM_005249.5
p.E220delFs
c.660delG
1 paper
NM_005249.5
p.P216L
c.647C>T
2 papers
NM_005249.5
p.P216S
c.646C>T
1 paper
NM_005249.5
p.N221delFs
c.662_663delAC
21 papers
NM_005249.5
p.F215L
c.645C>A
21 papers
NM_005249.5
p.F215L
c.645C>G
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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."