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.S300_P302delFs

c.898_905del8

Surrounding Variants

1 paper

NM_003106.4

p.S300fs

c.898_899fs

1 paper

NM_003106.4

p.G301fs

c.901_902fs

2 papers

NM_003106.4

p.P302delFs

c.905delC

1 paper

NM_003106.4

p.P302fs

c.904_905fs

2 papers

NM_003106.4

p.P302fs

c.904_905fs

1 paper

NM_003106.4

p.P302P

c.906G>T

1 paper

NM_003106.4

p.P304_M317del14

c.910_950del42

1 paper

NM_003106.4

p.Q296*

c.886C>T

2 papers

NM_003106.4

p.V303V

c.909G>C

1 paper

NM_003106.4

p.P304A

c.910C>G

1 paper

NM_003106.4

p.G305D

c.914G>A

1 paper

NM_003106.4

p.A307_G310delFs

c.921_930del10