Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.R230C

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
5 papers
NM_005249.5
p.R230C
c.688C>T
Surrounding Variants
2 papers
NM_005249.5
p.R230G
c.688C>G
11 papers
NM_005249.5
p.R230H
c.689G>A
3 papers
NM_005249.5
p.R230L
c.689G>T
1 paper
NM_005249.5
p.I229delins
c.686_687delinsAA
3 papers
NM_005249.5
p.I229L
c.685A>C
3 papers
NM_005249.5
p.H231Q
c.693C>A
1 paper
NM_005249.5
p.S228C
c.683C>G
1 paper
NM_005249.5
p.H231Q
c.693C>G
2 papers
NM_005249.5
p.N232D
c.694A>G
7 papers
NM_005249.5
p.N232Y
c.694A>T
1 paper
NM_005249.5
p.N232T
c.695A>C
6 papers
NM_005249.5
p.N232S
c.695A>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."