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.E8K

c.22G>A

Surrounding Variants

1 paper

NM_003106.4

p.E8*

c.22G>T

1 paper

NM_003106.4

p.T7delins

c.20delinsC

1 paper

NM_003106.4

p.L9insFs

c.26dupT

1 paper

NM_003106.4

p.L9L

c.25C>T

1 paper

NM_003106.4

p.L9Q

c.26T>A

1 paper

NM_003106.4

p.E6V

c.17A>T

1 paper

NM_003106.4

p.K10Q

c.28A>C

1 paper

NM_003106.4

p.K10E

c.28A>G

2 papers

NM_003106.4

p.K10*

c.28A>T

4 papers

NM_003106.4

p.E6*

c.16G>T

1 paper

NM_003106.4

p.M5I

c.15G>A

1 paper

NM_003106.4

p.M5I

c.15G>C