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.M5I

c.15G>T

Surrounding Variants

1 paper

NM_003106.4

p.M5I

c.15G>A

1 paper

NM_003106.4

p.M5I

c.15G>C

4 papers

NM_003106.4

p.E6*

c.16G>T

1 paper

NM_003106.4

p.M5R

c.14T>G

2 papers

NM_003106.4

p.M5insFs

c.14dupT

1 paper

NM_003106.4

p.E6V

c.17A>T

1 paper

NM_003106.4

p.M5delFs

c.14_15delTG

1 paper

NM_003106.4

p.M5_E6del1

c.14_16delTGG

2 papers

NM_003106.4

p.M4I

c.12G>A

4 papers

NM_003106.4

p.M4I

c.12G>C

1 paper

NM_003106.4

p.M5_Q15delFs

c.13_43del31

1 paper

NM_003106.4

p.T7delins

c.20delinsC