Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.G104R

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.G104R
c.310G>A
Surrounding Variants
1 paper
NM_005634.3
p.G104R
c.310G>C
2 papers
NM_005634.3
p.P103insFs
c.307_308insAG
1 paper
NM_005634.3
p.P103T
c.307C>A
2 papers
NM_005634.3
p.A102_P103insFs
c.306_307insAG
1 paper
NM_005634.3
p.A102V
c.305C>T
1 paper
NM_005634.3
p.A106T
c.316G>A
1 paper
NM_005634.3
p.A102T
c.304G>A
1 paper
NM_005634.3
p.K108T
c.323A>C
1 paper
NM_005634.3
p.G98insFs
c.293_294insC
1 paper
NM_005634.3
p.T97N
c.290C>A
1 paper
NM_005634.3
p.G96delFs
c.287delC
2 papers
NM_005634.3
p.G96fs
c.286_287fs
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