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.A191A

c.573A>G

Surrounding Variants

1 paper

NM_003106.4

p.A192delFs

c.575_576delCG

1 paper

NM_003106.4

p.A191V

c.572C>T

1 paper

NM_003106.4

p.A192V

c.575C>T

9 papers

NM_003106.4

p.A191T

c.571G>A

1 paper

NM_003106.4

p.Q193*

c.577C>T

2 papers

NM_003106.4

p.Q193R

c.578A>G

1 paper

NM_003106.4

p.Q193delFs

c.579delG

1 paper

NM_003106.4

p.Q193Q

c.579G>A

1 paper

NM_003106.4

p.H189Y

c.565C>T

1 paper

NM_003106.4

p.M194_H198insFs

c.582_592dup11

1 paper

NM_003106.4

p.Q195_P196del1

c.584_586delAGC

2 papers

NM_003106.4

p.M194_Q195delins

c.582_583delinsTT