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.P13delFs

c.37delC

Surrounding Variants

1 paper

NM_005986.3

p.Q17H

c.51G>C

1 paper

NM_005986.3

p.Q17H

c.51G>T

1 paper

NM_005986.3

p.A18D

c.53C>A

2 papers

NM_005986.3

p.M5insFs

c.14dupT

1 paper

NM_005986.3

p.G24_G30delFs

c.70_89del20

1 paper

NM_005986.3

p.P25A

c.73C>G

1 paper

NM_005986.3

p.A28insFs

c.84dupG

1 paper

NM_005986.3

p.G31_G32del0

c.91_96del6

1 paper

NM_005986.3

p.G36_G37ins1

c.108_109insGGC

4 papers

NM_005986.3

p.G41_G42del1

c.123_125delCGG

1 paper

NM_005986.3

p.G40G

c.120C>A

3 papers

NM_005986.3

p.G43del1

c.127_128delGGC