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.S224N

c.671G>A

Surrounding Variants

1 paper

NM_003106.4

p.M225V

c.673A>G

1 paper

NM_003106.4

p.S226insFs

c.677dupC

1 paper

NM_003106.4

p.T222N

c.665C>A

2 papers

NM_003106.4

p.T222I

c.665C>T

1 paper

NM_003106.4

p.T222P

c.664A>C

1 paper

NM_003106.4

p.S226S

c.678C>T

1 paper

NM_003106.4

p.Y227H

c.679T>C

1 paper

NM_003106.4

p.Y227fs

c.679_680fs

1 paper

NM_003106.4

p.Y227C

c.680A>G

1 paper

NM_003106.4

p.Y227*

c.681C>A

1 paper

NM_003106.4

p.Y227*

c.681C>G

1 paper

NM_003106.4

p.P221S

c.661C>T