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.K97Q

c.289A>C

Surrounding Variants

1 paper

NM_005986.3

p.K97T

c.290A>C

1 paper

NM_005986.3

p.E94_I101delFs

c.281_303del23

1 paper

NM_005986.3

p.D102N

c.304G>A

1 paper

NM_005986.3

p.V91_E96del6

c.271_287del18

1 paper

NM_005986.3

p.E88A

c.263A>C

1 paper

NM_005986.3

p.R108_A109insGGC

c.322_326ins9

1 paper

NM_005986.3

p.L85L

c.255G>C

1 paper

NM_005986.3

p.A109_H111del3

c.325_332del9

1 paper

NM_005986.3

p.M112I

c.336G>A

1 paper

NM_005986.3

p.M112I

c.336G>C

1 paper

NM_005986.3

p.M112I

c.336G>T

1 paper

NM_005986.3

p.E114E

c.342G>A