Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.R320S

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.R320S
c.958C>A
Surrounding Variants
2 papers
NM_005249.5
p.R320fs
c.958_959fs
1 paper
NM_005249.5
p.A321G
c.962C>G
3 papers
NM_005249.5
p.H318insFs
c.953_954insC
3 papers
NM_005249.5
p.R320delFs
c.958delC
1 paper
NM_005249.5
p.S322insFs
c.964dupA
1 paper
NM_005249.5
p.H317R
c.950A>G
1 paper
NM_005249.5
p.S323fs
c.967_968fs
6 papers
NM_005249.5
p.S323delFs
c.969delC
1 paper
NM_005249.5
p.T324delFs
c.970_971delAC
4 papers
NM_005249.5
p.L316fs
c.946_947fs
7 papers
NM_005249.5
p.L325insFs
c.974dupT
1 paper
NM_005249.5
p.L325fs
c.973_974fs
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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."