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.V244_K245del2

c.730_734del6

Surrounding Variants

1 paper

NM_003106.4

p.S242L

c.725C>T

1 paper

NM_003106.4

p.S246_E247delFs

c.736_739del4

1 paper

NM_003106.4

p.G241_V255del15

c.721_764del45

1 paper

NM_003106.4

p.S246_S250delFs

c.738_748del11

1 paper

NM_003106.4

p.M240R

c.719T>G

1 paper

NM_003106.4

p.E247_P253del7

c.739_758del21

1 paper

NM_003106.4

p.E247fs

c.739_740fs

2 papers

NM_003106.4

p.G238S

c.712G>A

1 paper

NM_003106.4

p.G238fs

c.712_713fs

1 paper

NM_003106.4

p.S249C

c.745A>T

3 papers

NM_003106.4

p.S250T

c.748T>A

1 paper

NM_003106.4

p.S250A

c.748T>G