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.P106delFs

c.316delC

Surrounding Variants

1 paper

NM_003106.4

p.H105L

c.314A>T

1 paper

NM_003106.4

p.H105N

c.313C>A

1 paper

NM_003106.4

p.E104_H105delFs

c.312_313delGC

1 paper

NM_003106.4

p.P106Q

c.317C>A

7 papers

NM_003106.4

p.E104*

c.310G>T

1 paper

NM_003106.4

p.D107N

c.319G>A

1 paper

NM_003106.4

p.D107delFs

c.320delA

1 paper

NM_003106.4

p.D107insFs

c.320_321insGC

1 paper

NM_003106.4

p.K103T

c.308A>C

1 paper

NM_003106.4

p.D107_Y108insFs

c.321_322insGC

1 paper

NM_003106.4

p.Y108_R111del4

c.322_332del12

1 paper

NM_003106.4

p.Y108C

c.323A>G