Varaico: Literature-Extracted Genetic Variants

SOX1

118 papers

RefSeq Summary

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. Th...

Pfam Domains

HMG_boxaa 51–119UCSCHMG (high mobility group) box

SOXpaa 120–249UCSCSOX transcription factor

Gene Aliases

HGNC Name

SRY-box transcription factor 1

HGNC Previous Names

SRY (sex determining region Y)-box 1; SRY-box 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005986.3

p.K134R

c.401A>G

Surrounding Variants

2 papers

NM_005986.3

p.G139S

c.415G>A

1 paper

NM_005986.3

p.G140E

c.419G>A

1 paper

NM_005986.3

p.T126I

c.377C>T

1 paper

NM_005986.3

p.A143fs

c.427_428fs

1 paper

NM_005986.3

p.A143_A144insFs

c.429_430ins14

1 paper

NM_005986.3

p.P122delFs

c.366delG

1 paper

NM_005986.3

p.P122fs

c.364_365fs

1 paper

NM_005986.3

p.A154_G156del3

c.460_467del9

1 paper

NM_005986.3

p.E114E

c.342G>A

1 paper

NM_005986.3

p.A154_G156del0

c.462_467del6

3 papers

NM_005986.3

p.M155_V157del3

c.463_470del9

4 papers

NM_005986.3

p.M155_V157del0

c.464_469del6