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.S83delFs

c.249delG

Surrounding Variants

7 papers

NM_003106.4

p.S83*

c.248C>A

1 paper

NM_003106.4

p.S83A

c.247T>G

1 paper

NM_003106.4

p.E84K

c.250G>A

1 paper

NM_003106.4

p.E84Q

c.250G>C

1 paper

NM_003106.4

p.S83_T85delFs

c.247_253del7

3 papers

NM_003106.4

p.L82*

c.245T>A

1 paper

NM_003106.4

p.T85insFs

c.253dupA

1 paper

NM_003106.4

p.L82V

c.244T>G

3 papers

NM_003106.4

p.L82fs

c.244_245fs

2 papers

NM_003106.4

p.T85M

c.254C>T

1 paper

NM_003106.4

p.L82delFs

c.245delT

3 papers

NM_003106.4

p.L82delFs

c.244_245delTT