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.M59I

c.177G>C

Surrounding Variants

1 paper

NM_005986.3

p.V60L

c.178G>C

1 paper

NM_005986.3

p.R63C

c.187C>T

1 paper

NM_005986.3

p.R66Q

c.197G>A

3 papers

NM_005986.3

p.K52_R53del1

c.155_157delAAC

1 paper

NM_005986.3

p.K52del1

c.154_156delAAA

1 paper

NM_005986.3

p.K68T

c.203A>C

1 paper

NM_005986.3

p.K75_M76delFs

c.225_228del4

1 paper

NM_005986.3

p.H77del1

c.229_231delCAC

3 papers

NM_005986.3

p.G43del1

c.127_128delGGC

1 paper

NM_005986.3

p.G40G

c.120C>A

1 paper

NM_005986.3

p.N78K

c.234C>A

1 paper

NM_005986.3

p.N78K

c.234C>G