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.N33fs

c.97_98fs

Surrounding Variants

1 paper

NM_003106.4

p.N33S

c.98A>G

1 paper

NM_003106.4

p.G32G

c.96C>A

1 paper

NM_003106.4

p.G32D

c.95G>A

1 paper

NM_003106.4

p.G31G

c.93C>G

1 paper

NM_003106.4

p.K35insFs

c.105dupA

1 paper

NM_003106.4

p.G31V

c.92G>T

6 papers

NM_003106.4

p.K35*

c.103A>T

1 paper

NM_003106.4

p.G31fs

c.91_92fs

1 paper

NM_003106.4

p.N36fs

c.106_107fs

1 paper

NM_003106.4

p.N36insFs

c.108dupC

1 paper

NM_003106.4

p.N36_S37delFs

c.108_111del4

1 paper

NM_003106.4

p.N36N

c.108C>T