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

9 papers

NM_003106.4

p.N46K

c.138T>A

Surrounding Variants

9 papers

NM_003106.4

p.N46K

c.138T>G

1 paper

NM_003106.4

p.N46_A47ins0

c.138_140dupTGC

1 paper

NM_003106.4

p.N46S

c.137A>G

1 paper

NM_003106.4

p.A47D

c.140C>A

1 paper

NM_003106.4

p.M45V

c.133A>G

1 paper

NM_003106.4

p.M45L

c.133A>T

2 papers

NM_003106.4

p.F48delins

c.143_144delinsAA

6 papers

NM_003106.4

p.P44R

c.131C>G

3 papers

NM_003106.4

p.R43L

c.128G>T

1 paper

NM_003106.4

p.K42R

c.125A>G

1 paper

NM_003106.4

p.W51R

c.151T>A

1 paper

NM_003106.4

p.W51R

c.151T>C