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.D339G

c.1016A>G

Surrounding Variants

1 paper

NM_005986.3

p.M346V

c.1036A>G

1 paper

NM_005986.3

p.A330A

c.990G>A

1 paper

NM_005986.3

p.P329fs

c.985_986fs

1 paper

NM_005986.3

p.A328S

c.982G>T

1 paper

NM_005986.3

p.P329delFs

c.986delC

1 paper

NM_005986.3

p.G354fs

c.1060_1061fs

1 paper

NM_005986.3

p.A363V

c.1088C>T

1 paper

NM_005986.3

p.A310_A313del0

c.930_938del9

1 paper

NM_005986.3

p.A306del1

c.916_917delGCG

1 paper

NM_005986.3

p.A304T

c.910G>A

1 paper

NM_005986.3

p.Q376*

c.1126C>T

4 papers

NM_005986.3

p.A380ins2

c.1139_1140ins6