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

2 papers

NM_003106.4

p.G20delFs

c.59delG

Surrounding Variants

5 papers

NM_003106.4

p.S18*

c.53C>A

5 papers

NM_003106.4

p.G20insFs

c.59dupG

2 papers

NM_003106.4

p.G20insFs

c.59_60insGG

1 paper

NM_003106.4

p.G19_G31delFs

c.56_92del37

1 paper

NM_003106.4

p.G19fs

c.55_56fs

1 paper

NM_003106.4

p.G20_G23delFs

c.58_68del11

1 paper

NM_003106.4

p.S18del1

c.52_53delTCG

1 paper

NM_003106.4

p.G19_G20delFs

c.57_60del4

2 papers

NM_003106.4

p.T17A

c.49A>G

1 paper

NM_003106.4

p.G23_N24ins7

c.69_70ins21

1 paper

NM_003106.4

p.G20_G22del3

c.58_65del9

2 papers

NM_003106.4

p.G20_A27delFs

c.58_80del23