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.G142R

c.424G>A

Surrounding Variants

3 papers

NM_003106.4

p.A140V

c.419C>T

1 paper

NM_003106.4

p.V143V

c.429C>T

1 paper

NM_003106.4

p.A140P

c.418G>C

1 paper

NM_003106.4

p.G144A

c.431G>C

2 papers

NM_003106.4

p.V145M

c.433G>A

1 paper

NM_003106.4

p.M139delFs

c.415delA

2 papers

NM_003106.4

p.V145G

c.434T>G

1 paper

NM_003106.4

p.A147P

c.439G>C

2 papers

NM_003106.4

p.G148S

c.442G>A

1 paper

NM_003106.4

p.G135_G136insFs

c.405_406insCT

2 papers

NM_003106.4

p.G148D

c.443G>A

1 paper

NM_003106.4

p.G135D

c.404G>A