Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.L204L

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
1 paper
NM_005249.5
p.L204L
c.612C>T
Surrounding Variants
6 papers
NM_005249.5
p.L204F
c.610C>T
2 papers
NM_005249.5
p.L204fs
c.610_611fs
2 papers
NM_005249.5
p.T203_G206delFs
c.609_616del8
1 paper
NM_005249.5
p.L202L
c.606C>G
1 paper
NM_005249.5
p.T203_G206delFs
c.607_616del10
2 papers
NM_005249.5
p.I207F
c.619A>T
1 paper
NM_005249.5
p.L202I
c.604C>A
1 paper
NM_005249.5
p.L202F
c.604C>T
2 papers
NM_005249.5
p.I207T
c.620T>C
1 paper
NM_005249.5
p.R201P
c.602G>C
12 papers
NM_005249.5
p.Y208*
c.624C>A
13 papers
NM_005249.5
p.Y208*
c.624C>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."