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.L312L

c.936G>C

Surrounding Variants

1 paper

NM_003106.4

p.P313_S315delFs

c.938_945del8

1 paper

NM_003106.4

p.P313L

c.938C>T

1 paper

NM_003106.4

p.L312_P313del2

c.934_938del6

1 paper

NM_003106.4

p.S315delFs

c.943_944delTC

1 paper

NM_003106.4

p.L314delFs

c.941delT

1 paper

NM_003106.4

p.L314fs

c.940_941fs

1 paper

NM_003106.4

p.L314R

c.941T>G

1 paper

NM_003106.4

p.L314L

c.942C>G

1 paper

NM_003106.4

p.S315fs

c.943_944fs

1 paper

NM_003106.4

p.S315L

c.944C>T

1 paper

NM_003106.4

p.M317V

c.949A>G

1 paper

NM_003106.4

p.I308V

c.922A>G