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.R262delFs

c.785delG

Surrounding Variants

1 paper

NM_003106.4

p.R262G

c.784A>G

1 paper

NM_003106.4

p.R262S

c.786G>C

1 paper

NM_003106.4

p.R262S

c.786G>T

1 paper

NM_003106.4

p.A263T

c.787G>A

1 paper

NM_003106.4

p.A263E

c.788C>A

1 paper

NM_003106.4

p.H260R

c.779A>G

1 paper

NM_003106.4

p.A263A

c.789G>A

2 papers

NM_003106.4

p.P264T

c.790C>A

1 paper

NM_003106.4

p.P264insFs

c.790_791insT

1 paper

NM_003106.4

p.P264S

c.790C>T

1 paper

NM_003106.4

p.C265*

c.795C>A

2 papers

NM_003106.4

p.A267T

c.799G>A