Varaico: Literature-Extracted Genetic Variants

SOX2

696 papers

RefSeq Summary

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

Pfam Domains

HMG_boxaa 41–109UCSCHMG (high mobility group) box

SOXpaa 110–200UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 2

HGNC Previous Names

SRY (sex determining region Y)-box 2; SRY-box 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003106.4

p.G135_G136insFs

c.405_406insCT

Surrounding Variants

1 paper

NM_003106.4

p.G135D

c.404G>A

1 paper

NM_003106.4

p.G135fs

c.403_404fs

2 papers

NM_003106.4

p.P134R

c.401C>G

1 paper

NM_003106.4

p.A133G

c.398C>G

1 paper

NM_003106.4

p.A133V

c.398C>T

1 paper

NM_003106.4

p.A133T

c.397G>A

1 paper

NM_003106.4

p.P134_G135insFs

c.402_403insC

2 papers

NM_003106.4

p.P134delFs

c.402delC

1 paper

NM_003106.4

p.M139delFs

c.415delA

1 paper

NM_003106.4

p.L132L

c.394C>T

1 paper

NM_003106.4

p.A140P

c.418G>C

1 paper

NM_003106.4

p.L131fs

c.391_392fs