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.S69A

c.205T>G

Surrounding Variants

1 paper

NM_003106.4

p.S69L

c.206C>T

1 paper

NM_003106.4

p.S69delFs

c.205_206delTC

1 paper

NM_003106.4

p.E70Q

c.208G>C

1 paper

NM_003106.4

p.E70insFs

c.208_209insC

1 paper

NM_003106.4

p.N68_S69del2

c.202_206del6

2 papers

NM_003106.4

p.H67R

c.200A>G

2 papers

NM_003106.4

p.I71_S72insG

c.211_215ins3

1 paper

NM_003106.4

p.H67Y

c.199C>T

1 paper

NM_003106.4

p.H67delFs

c.200delA

1 paper

NM_003106.4

p.H67fs

c.199_200fs

1 paper

NM_003106.4

p.S72T

c.215G>C

1 paper

NM_003106.4

p.K65R

c.194A>G