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.M1_E8del8

c.1_23del24

Surrounding Variants

1 paper

NM_003106.4

p.M1insFs

c.1dupA

1 paper

NM_003106.4

p.M1insFs

c.1_2dupAT

1 paper

NM_003106.4

p.M1ins0

c.1_3dupATG

1 paper

NM_003106.4

p.M1_Y2insFs

c.1_5dup5

1 paper

NM_003106.4

p.M1delFs

c.1delA

1 paper

NM_003106.4

p.M1delFs

c.1_2delAT

1 paper

NM_003106.4

p.M1del1

c.1_2delATG

1 paper

NM_003106.4

p.M1_N3delFs

c.1_8del8

3 papers

NM_003106.4

p.M1insFs

c.2dupT

1 paper

NM_003106.4

p.M1insFs

c.2_3dupTG

1 paper

NM_003106.4

p.M1_Y2ins0

c.2_4dupTGT

1 paper

NM_003106.4

p.M1_M4insFs

c.2_12dup11