Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.T134_D135insFs

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
2 papers
NM_005634.3
p.T134_D135insFs
c.402_403insC
Surrounding Variants
1 paper
NM_005634.3
p.G132R
c.394G>C
2 papers
NM_005634.3
p.G132R
c.394G>A
1 paper
NM_005634.3
p.G130A
c.389G>C
1 paper
NM_005634.3
p.K140R
c.419A>G
1 paper
NM_005634.3
p.R141G
c.421C>G
1 paper
NM_005634.3
p.P142A
c.424C>G
6 papers
NM_005634.3
p.P142T
c.424C>A
1 paper
NM_005634.3
p.S123R
c.369C>G
1 paper
NM_005634.3
p.S123R
c.369C>A
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.G121delFs
c.363delG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."