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.P279S

c.835C>T

Surrounding Variants

5 papers

NM_003106.4

p.P279delFs

c.837delC

1 paper

NM_003106.4

p.L278F

c.832C>T

1 paper

NM_003106.4

p.G280fs

c.838_839fs

4 papers

NM_003106.4

p.G280fs

c.838_839fs

1 paper

NM_003106.4

p.A281fs

c.841_842fs

1 paper

NM_003106.4

p.A281_P284Fs

c.841_851delinsAFs

1 paper

NM_003106.4

p.M276I

c.828G>C

1 paper

NM_003106.4

p.Y277_P289del13

c.829_866del39

2 papers

NM_003106.4

p.M276delFs

c.828delG

2 papers

NM_003106.4

p.M276fs

c.826_827fs

3 papers

NM_003106.4

p.E282K

c.844G>A

1 paper

NM_003106.4

p.E282V

c.845A>T