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.H101R

c.302A>G

Surrounding Variants

1 paper

NM_003106.4

p.M102_P106delFs

c.304_317del14

2 papers

NM_003106.4

p.H101D

c.301C>G

1 paper

NM_003106.4

p.M102fs

c.304_305fs

1 paper

NM_003106.4

p.K103T

c.308A>C

1 paper

NM_003106.4

p.A99G

c.296C>G

1 paper

NM_003106.4

p.A99S

c.295G>T

7 papers

NM_003106.4

p.E104*

c.310G>T

1 paper

NM_003106.4

p.E104_H105delFs

c.312_313delGC

1 paper

NM_003106.4

p.R98Q

c.293G>A

1 paper

NM_003106.4

p.R98P

c.293G>C

1 paper

NM_003106.4

p.R98insFs

c.293_294insC

1 paper

NM_003106.4

p.R98*

c.292C>T