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.P38_K42delFs

c.112_124del13

Surrounding Variants

1 paper

NM_003106.4

p.P38_D39insFs

c.112_115dup4

1 paper

NM_003106.4

p.P38T

c.112C>A

2 papers

NM_003106.4

p.P38S

c.112C>T

1 paper

NM_003106.4

p.N36N

c.108C>T

1 paper

NM_003106.4

p.N36insFs

c.108dupC

1 paper

NM_003106.4

p.N36_S37delFs

c.108_111del4

1 paper

NM_003106.4

p.N36fs

c.106_107fs

1 paper

NM_003106.4

p.D39A

c.116A>C

6 papers

NM_003106.4

p.K35*

c.103A>T

1 paper

NM_003106.4

p.K35insFs

c.105dupA

1 paper

NM_003106.4

p.V41_K42del1

c.122_124delTCA

1 paper

NM_003106.4

p.V41A

c.122T>C