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.A204del1

c.610_611delGCC

Surrounding Variants

1 paper

NM_005986.3

p.A197V

c.590C>T

1 paper

NM_005986.3

p.A197_A204delFs

c.590_612del23

1 paper

NM_005986.3

p.Q215*

c.643C>T

1 paper

NM_005986.3

p.H216N

c.646C>A

1 paper

NM_005986.3

p.P217Q

c.650C>A

1 paper

NM_005986.3

p.N185T

c.554A>C

1 paper

NM_005986.3

p.H225_P228del4

c.673_683del12

1 paper

NM_005986.3

p.H225_P228del0

c.675_683del9

1 paper

NM_005986.3

p.A226E

c.677C>A

1 paper

NM_005986.3

p.P228H

c.683C>A

1 paper

NM_005986.3

p.A229_P231del3

c.685_692del9

1 paper

NM_005986.3

p.A229_P231del0

c.686_691del6