Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.P232P

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.P232P
c.696C>A
Surrounding Variants
1 paper
NM_005634.3
p.P232S
c.694C>T
2 papers
NM_005634.3
p.A234_A235ins11
c.700_704ins33
1 paper
NM_005634.3
p.A234T
c.700G>A
1 paper
NM_005634.3
p.P231L
c.692C>T
1 paper
NM_005634.3
p.A234V
c.701C>T
1 paper
NM_005634.3
p.A235V
c.704C>T
1 paper
NM_005634.3
p.D221_A236del16
c.661_707del48
1 paper
NM_005634.3
p.A239A
c.717C>T
2 papers
NM_005634.3
p.A240_A241ins7
c.718_722ins21
1 paper
NM_005634.3
p.A241T
c.721G>A
1 paper
NM_005634.3
p.S224P
c.670T>C
2 papers
NM_005634.3
p.A244A
c.732A>C
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