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.V41A

c.122T>C

Surrounding Variants

1 paper

NM_003106.4

p.V41_K42del1

c.122_124delTCA

1 paper

NM_003106.4

p.K42R

c.125A>G

1 paper

NM_003106.4

p.D39A

c.116A>C

3 papers

NM_003106.4

p.R43L

c.128G>T

6 papers

NM_003106.4

p.P44R

c.131C>G

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.M45V

c.133A>G

1 paper

NM_003106.4

p.M45L

c.133A>T

1 paper

NM_003106.4

p.P38_D39insFs

c.112_115dup4

1 paper

NM_003106.4

p.P38_K42delFs

c.112_124del13

1 paper

NM_003106.4

p.N36N

c.108C>T