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

2 papers

NM_003106.4

p.R74_W79delFs

c.221_236del16

Surrounding Variants

9 papers

NM_003106.4

p.R74P

c.221G>C

1 paper

NM_003106.4

p.R74R

c.222C>T

1 paper

NM_003106.4

p.L75_K80insFs

c.224_240dup17

7 papers

NM_003106.4

p.L75Q

c.224T>A

1 paper

NM_003106.4

p.L75P

c.224T>C

1 paper

NM_003106.4

p.S72T

c.215G>C

1 paper

NM_003106.4

p.G76D

c.227G>A

2 papers

NM_003106.4

p.I71_S72insG

c.211_215ins3

4 papers

NM_003106.4

p.E78K

c.232G>A

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.S69L

c.206C>T