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.R57H

c.170G>A

Surrounding Variants

1 paper

NM_003106.4

p.K58insFs

c.172_173insG

1 paper

NM_003106.4

p.R57_A60del4

c.169_179del12

1 paper

NM_003106.4

p.R56Q

c.167G>A

4 papers

NM_003106.4

p.R56G

c.166C>G

2 papers

NM_003106.4

p.M59_A60insGG

c.175_179ins6

2 papers

NM_003106.4

p.Q55*

c.163C>T

1 paper

NM_003106.4

p.M59I

c.177G>C

2 papers

NM_003106.4

p.A60_Q61insG

c.178_182ins3

1 paper

NM_003106.4

p.Q55delFs

c.163delC

1 paper

NM_003106.4

p.A60V

c.179C>T

1 paper

NM_003106.4

p.G54R

c.160G>A

1 paper

NM_003106.4

p.G54R

c.160G>C