Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.H51L

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.H51L
c.152A>T
Surrounding Variants
2 papers
NM_005249.5
p.H51Y
c.151C>T
1 paper
NM_005249.5
p.H54_H55del1
c.161_163delATC
1 paper
NM_005249.5
p.H54R
c.161A>G
1 paper
NM_005249.5
p.H57_P58ins0
c.170_172dupACC
1 paper
NM_005249.5
p.H56_P59delFs
c.167_176del10
1 paper
NM_005249.5
p.H47Y
c.139C>T
2 papers
NM_005249.5
p.Q46H
c.138G>C
1 paper
NM_005249.5
p.H53_H54ins0
c.159_161dupCCA
2 papers
NM_005249.5
p.Q46H
c.138G>T
1 paper
NM_005249.5
p.H47del1
c.139_140delCAC
1 paper
NM_005249.5
p.H47_H51del5
c.139_152del15
5 papers
NM_005249.5
p.Q46*
c.136C>T
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