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.P14T

c.40C>A

Surrounding Variants

1 paper

NM_003106.4

p.P14Q

c.41C>A

1 paper

NM_003106.4

p.P14_Q15del2

c.40_44del6

1 paper

NM_003106.4

p.P14_Q16del3

c.40_47del9

3 papers

NM_003106.4

p.G13D

c.38G>A

3 papers

NM_003106.4

p.G13A

c.38G>C

1 paper

NM_003106.4

p.G13V

c.38G>T

1 paper

NM_003106.4

p.G13R

c.37G>C

1 paper

NM_003106.4

p.G13C

c.37G>T

1 paper

NM_003106.4

p.Q15insFs

c.45dupG

2 papers

NM_003106.4

p.P11L

c.32C>T

2 papers

NM_003106.4

p.T17A

c.49A>G

1 paper

NM_003106.4

p.P11fs

c.31_32fs