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.Y180F

c.539A>T

Surrounding Variants

4 papers

NM_003106.4

p.P181delFs

c.542delC

1 paper

NM_003106.4

p.Y180*

c.540C>A

3 papers

NM_003106.4

p.Y180*

c.540C>G

1 paper

NM_003106.4

p.Y180Y

c.540C>T

1 paper

NM_003106.4

p.P181S

c.541C>T

1 paper

NM_003106.4

p.P181delins

c.541_542delinsGA

4 papers

NM_003106.4

p.P181fs

c.541_542fs

2 papers

NM_003106.4

p.P181Q

c.542C>A

1 paper

NM_003106.4

p.Y180_P181insFs

c.538_542dup5

1 paper

NM_003106.4

p.Q182fs

c.544_545fs

1 paper

NM_003106.4

p.L178delFs

c.533delT

4 papers

NM_003106.4

p.P184delFs

c.551delC