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

3 papers

NM_003106.4

p.S250T

c.748T>A

Surrounding Variants

1 paper

NM_003106.4

p.S250A

c.748T>G

1 paper

NM_003106.4

p.S250S

c.750C>A

1 paper

NM_003106.4

p.S249C

c.745A>T

1 paper

NM_003106.4

p.P253insFs

c.758dupC

1 paper

NM_003106.4

p.S251delFs

c.753delC

1 paper

NM_003106.4

p.P253fs

c.757_758fs

2 papers

NM_003106.4

p.P253fs

c.757_758fs

1 paper

NM_003106.4

p.E247fs

c.739_740fs

2 papers

NM_003106.4

p.P253R

c.758C>G

1 paper

NM_003106.4

p.P253L

c.758C>T

1 paper

NM_003106.4

p.E247_P253del7

c.739_758del21

1 paper

NM_003106.4

p.S246_S250delFs

c.738_748del11