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.M217I

c.651G>A

Surrounding Variants

1 paper

NM_003106.4

p.M217I

c.651G>C

1 paper

NM_003106.4

p.M217I

c.651G>T

1 paper

NM_003106.4

p.Y216C

c.647A>G

1 paper

NM_003106.4

p.S220del1

c.658_660delTCG

1 paper

NM_003106.4

p.S220A

c.658T>G

1 paper

NM_003106.4

p.S220insFs

c.659dupC

4 papers

NM_003106.4

p.S220L

c.659C>T

1 paper

NM_003106.4

p.P221_A236del16

c.661_707del48

1 paper

NM_003106.4

p.Q214insFs

c.641_642insC

1 paper

NM_003106.4

p.P221S

c.661C>T

1 paper

NM_003106.4

p.Q214*

c.640C>T

1 paper

NM_003106.4

p.T222P

c.664A>C