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.D123V

c.368A>T

Surrounding Variants

4 papers

NM_003106.4

p.D123G

c.368A>G

1 paper

NM_003106.4

p.D123N

c.367G>A

1 paper

NM_003106.4

p.D123fs

c.367_368fs

1 paper

NM_003106.4

p.D123fs

c.367_368fs

1 paper

NM_003106.4

p.K124delFs

c.371_372delAG

1 paper

NM_003106.4

p.K122N

c.366G>C

1 paper

NM_003106.4

p.K122N

c.366G>T

1 paper

NM_003106.4

p.K121N

c.363G>C

1 paper

NM_003106.4

p.K121R

c.362A>G

1 paper

NM_003106.4

p.T126delFs

c.377delC

1 paper

NM_003106.4

p.M120I

c.360G>A

1 paper

NM_003106.4

p.K122_K124del3

c.364_371del9