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.G20Fs

c.58_59delinsTFs

Surrounding Variants

1 paper

NM_003106.4

p.G20_T26insFs

c.59_77dup19

1 paper

NM_003106.4

p.N24_A30insFs

c.70_89dup20

3 papers

NM_003106.4

p.G20fs

c.58_59fs

2 papers

NM_003106.4

p.G20fs

c.58_59fs

23 papers

NM_003106.4

p.N24_A30delFs

c.70_89del20

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

9 papers

NM_003106.4

p.G20_G21insFs

c.60_61insG

1 paper

NM_003106.4

p.G19_G20delFs

c.57_60del4

1 paper

NM_003106.4

p.G21R

c.61G>C

1 paper

NM_003106.4

p.G21fs

c.61_62fs