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

7 papers

NM_003106.4

p.Y110C

c.329A>G

Surrounding Variants

4 papers

NM_003106.4

p.Y110*

c.330C>A

3 papers

NM_003106.4

p.Y110*

c.330C>G

1 paper

NM_003106.4

p.R111W

c.331C>T

1 paper

NM_003106.4

p.P112T

c.334C>A

1 paper

NM_003106.4

p.P112S

c.334C>T

1 paper

NM_003106.4

p.K115_G130delFs

c.343_389del47

1 paper

NM_003106.4

p.Y108C

c.323A>G

2 papers

NM_003106.4

p.P112L

c.335C>T

1 paper

NM_003106.4

p.R113_Y125delFs

c.338_375del38

1 paper

NM_003106.4

p.R113W

c.337C>T

1 paper

NM_003106.4

p.D107_Y108insFs

c.321_322insGC

1 paper

NM_003106.4

p.Y108_R111del4

c.322_332del12