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.G268R

c.802G>C

Surrounding Variants

1 paper

NM_003106.4

p.G268R

c.802G>A

1 paper

NM_003106.4

p.G268fs

c.802_803fs

2 papers

NM_003106.4

p.A267T

c.799G>A

1 paper

NM_003106.4

p.A267S

c.799G>T

1 paper

NM_003106.4

p.C265*

c.795C>A

1 paper

NM_003106.4

p.L270H

c.809T>A

1 paper

NM_003106.4

p.L270insFs

c.810dupC

1 paper

NM_003106.4

p.L270L

c.810C>A

7 papers

NM_003106.4

p.R271W

c.811C>T

1 paper

NM_003106.4

p.R271_L278delFs

c.813_834del22

2 papers

NM_003106.4

p.P264T

c.790C>A

1 paper

NM_003106.4

p.P264insFs

c.790_791insT