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

3 papers

NM_003106.4

p.Y200*

c.600C>G

Surrounding Variants

3 papers

NM_003106.4

p.Y200*

c.600C>A

1 paper

NM_003106.4

p.D201Y

c.601G>T

1 paper

NM_003106.4

p.Y200delFs

c.599delA

1 paper

NM_003106.4

p.R199C

c.595C>T

1 paper

NM_003106.4

p.H198fs

c.592_593fs

1 paper

NM_003106.4

p.H198insFs

c.592dupC

1 paper

NM_003106.4

p.A204S

c.610G>T

1 paper

NM_003106.4

p.M197_A204delFs

c.590_612del23

1 paper

NM_003106.4

p.A204V

c.611C>T

1 paper

NM_003106.4

p.L205_Q206del2

c.613_617del6

1 paper

NM_003106.4

p.P196S

c.586C>T

1 paper

NM_003106.4

p.Q195P

c.584A>C