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.M273I

c.819G>A

Surrounding Variants

1 paper

NM_003106.4

p.M273I

c.819G>C

1 paper

NM_003106.4

p.M273I

c.819G>T

1 paper

NM_003106.4

p.I274V

c.820A>G

2 papers

NM_003106.4

p.D272N

c.814G>A

2 papers

NM_003106.4

p.M276fs

c.826_827fs

1 paper

NM_003106.4

p.R271_L278delFs

c.813_834del22

7 papers

NM_003106.4

p.R271W

c.811C>T

2 papers

NM_003106.4

p.M276delFs

c.828delG

1 paper

NM_003106.4

p.L270L

c.810C>A

1 paper

NM_003106.4

p.M276I

c.828G>C

1 paper

NM_003106.4

p.Y277_P289del13

c.829_866del39

1 paper

NM_003106.4

p.L270H

c.809T>A