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.R291T

c.872G>C

Surrounding Variants

1 paper

NM_003106.4

p.S290N

c.869G>A

1 paper

NM_003106.4

p.S290fs

c.868_869fs

1 paper

NM_003106.4

p.H293_M294delFs

c.879_880delCA

1 paper

NM_003106.4

p.S290insFs

c.868dupA

1 paper

NM_003106.4

p.H293_M294insC

c.877_881ins3

1 paper

NM_003106.4

p.A288A

c.864C>G

1 paper

NM_003106.4

p.A288T

c.862G>A

1 paper

NM_003106.4

p.P289delFs

c.867delC

1 paper

NM_003106.4

p.A287T

c.859G>A

4 papers

NM_003106.4

p.A287P

c.859G>C

1 paper

NM_003106.4

p.Q296*

c.886C>T

1 paper

NM_003106.4

p.P286delFs

c.856delC