Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.P142A

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.P142A
c.424C>G
Surrounding Variants
6 papers
NM_005634.3
p.P142T
c.424C>A
1 paper
NM_005634.3
p.R141G
c.421C>G
1 paper
NM_005634.3
p.K140R
c.419A>G
2 papers
NM_005634.3
p.T134_D135insFs
c.402_403insC
5 papers
NM_005634.3
p.S150Y
c.449C>A
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.Q153*
c.457C>T
1 paper
NM_005634.3
p.G130A
c.389G>C
1 paper
NM_005634.3
p.S150_Q153del4
c.448_458del12
3 papers
NM_005634.3
p.R154delFs
c.462delC
2 papers
NM_005634.3
p.R155fs
c.463_464fs
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