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.V297_A298del1

c.891_893delGGC

Surrounding Variants

1 paper

NM_005986.3

p.A304_A305ins0

c.912_914dupGGC

1 paper

NM_005986.3

p.A298V

c.893C>T

1 paper

NM_005986.3

p.A291V

c.872C>T

1 paper

NM_005986.3

p.A304T

c.910G>A

1 paper

NM_005986.3

p.A306del1

c.916_917delGCG

1 paper

NM_005986.3

p.A288V

c.863C>T

1 paper

NM_005986.3

p.A287_G289del0

c.861_866del6

1 paper

NM_005986.3

p.A287P

c.859G>C

1 paper

NM_005986.3

p.A310_A313del0

c.930_938del9

1 paper

NM_005986.3

p.A284fs

c.850_851fs

1 paper

NM_005986.3

p.A283insFs

c.848_849insGT

1 paper

NM_005986.3

p.A280G

c.839C>G