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.H162_M163insFs

c.486_487dupCA

Surrounding Variants

1 paper

NM_003106.4

p.A161V

c.482C>T

1 paper

NM_003106.4

p.A161S

c.481G>T

1 paper

NM_003106.4

p.A161fs

c.481_482fs

11 papers

NM_003106.4

p.Y160*

c.480C>A

3 papers

NM_003106.4

p.Y160_A161insFs

c.480_481insA

13 papers

NM_003106.4

p.Y160*

c.480C>G

1 paper

NM_003106.4

p.Y160C

c.479A>G

1 paper

NM_003106.4

p.M163V

c.487A>G

1 paper

NM_003106.4

p.M163fs

c.487_488fs

1 paper

NM_003106.4

p.M163_W166delFs

c.488_497del10

2 papers

NM_003106.4

p.Y160H

c.478T>C

1 paper

NM_003106.4

p.Y160insFs

c.479dupA