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.N3insFs

c.9dupC

Surrounding Variants

2 papers

NM_003106.4

p.N3S

c.8A>G

1 paper

NM_003106.4

p.M4insFs

c.11dupT

1 paper

NM_003106.4

p.M4L

c.10A>T

1 paper

NM_003106.4

p.M4insFs

c.12dupG

1 paper

NM_003106.4

p.M5_T7del3

c.13_20del9

2 papers

NM_003106.4

p.M4I

c.12G>A

4 papers

NM_003106.4

p.M4I

c.12G>C

1 paper

NM_003106.4

p.M5_Q15delFs

c.13_43del31

1 paper

NM_003106.4

p.Y2N

c.4T>A

1 paper

NM_003106.4

p.Y2H

c.4T>C

1 paper

NM_003106.4

p.Y2insFs

c.5dupA

1 paper

NM_003106.4

p.Y2_N3del1

c.5_7delACA