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

1–12 of 99 variants

4 papers

NM_005986.3

p.G41_G42del1

c.123_125delCGG

4 papers

NM_005986.3

p.M155_V157del0

c.464_469del6

4 papers

NM_005986.3

p.A380ins2

c.1139_1140ins6

3 papers

NM_005986.3

p.G43del1

c.127_128delGGC

3 papers

NM_005986.3

p.K52_R53del1

c.155_157delAAC

3 papers

NM_005986.3

p.M155_V157del3

c.463_470del9

2 papers

NM_005986.3

p.M5insFs

c.14dupT

2 papers

NM_005986.3

p.G139S

c.415G>A

2 papers

NM_005986.3

p.A380V

c.1139C>T

1 paper

NM_005986.3

p.P13delFs

c.37delC

1 paper

NM_005986.3

p.Q17H

c.51G>C

1 paper

NM_005986.3

p.Q17H

c.51G>T