Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.G116delFs

SOX3

225 papers

RefSeq Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded p...

Pfam Domains

HMG_boxaa 139–207UCSCHMG (high mobility group) box
SOXpaa 208–302UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 3

HGNC Previous Symbol

PHP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005634.3
p.G116delFs
c.348delG
Surrounding Variants
1 paper
NM_005634.3
p.G116_A117insFs
c.348_349insC
2 papers
NM_005634.3
p.N118K
c.354C>G
2 papers
NM_005634.3
p.N118K
c.354C>A
1 paper
NM_005634.3
p.G120V
c.359G>T
1 paper
NM_005634.3
p.A113V
c.338C>T
2 papers
NM_005634.3
p.G120G
c.360C>G
1 paper
NM_005634.3
p.N112N
c.336C>T
1 paper
NM_005634.3
p.G121delFs
c.363delG
1 paper
NM_005634.3
p.S123R
c.367A>C
1 paper
NM_005634.3
p.G122delFs
c.366delG
1 paper
NM_005634.3
p.S123R
c.369C>G
1 paper
NM_005634.3
p.S123R
c.369C>A
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