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.R53_K58Fs

c.158_174delinsATGFs

Surrounding Variants

2 papers

NM_003106.4

p.R53fs

c.157_158fs

1 paper

NM_003106.4

p.G54R

c.160G>A

1 paper

NM_003106.4

p.G54R

c.160G>C

1 paper

NM_003106.4

p.Q55delFs

c.163delC

1 paper

NM_003106.4

p.S52T

c.154T>A

2 papers

NM_003106.4

p.Q55*

c.163C>T

1 paper

NM_003106.4

p.W51*

c.153G>A

1 paper

NM_003106.4

p.W51*

c.152G>A

1 paper

NM_003106.4

p.W51R

c.151T>A

1 paper

NM_003106.4

p.W51R

c.151T>C

1 paper

NM_003106.4

p.W51delFs

c.152delG

4 papers

NM_003106.4

p.R56G

c.166C>G