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.A94D

c.281C>A

Surrounding Variants

3 papers

NM_003106.4

p.K95insFs

c.285dupG

1 paper

NM_003106.4

p.E93V

c.278A>T

6 papers

NM_003106.4

p.E93*

c.277G>T

1 paper

NM_003106.4

p.E93fs

c.277_278fs

1 paper

NM_003106.4

p.D92D

c.276C>T

1 paper

NM_003106.4

p.E93_L97delFs

c.277_289del13

1 paper

NM_003106.4

p.R96P

c.287G>C

1 paper

NM_003106.4

p.L97L

c.289C>T

10 papers

NM_003106.4

p.L97P

c.290T>C

1 paper

NM_003106.4

p.I91insFs

c.271dupA

1 paper

NM_003106.4

p.R98*

c.292C>T

1 paper

NM_003106.4

p.R98Q

c.293G>A