Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.E173D

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.E173D
c.519G>C
Surrounding Variants
1 paper
NM_005249.5
p.E173D
c.519G>T
1 paper
NM_005249.5
p.K174insFs
c.520_521insT
2 papers
NM_005249.5
p.K174R
c.521A>G
2 papers
NM_005249.5
p.E173*
c.517G>T
1 paper
NM_005249.5
p.E173delFs
c.518delA
1 paper
NM_005249.5
p.E173fs
c.517_518fs
2 papers
NM_005249.5
p.G172D
c.515G>A
1 paper
NM_005249.5
p.G172_E173del1
c.515_517delGCG
1 paper
NM_005249.5
p.G177_Y186del10
c.529_557del30
6 papers
NM_005249.5
p.K170fs
c.508_509fs
2 papers
NM_005249.5
p.G169A
c.506G>C
1 paper
NM_005249.5
p.G169V
c.506G>T
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