Varaico: Literature-Extracted Genetic Variants

SOX8

97 papers

RefSeq Summary

This 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. The encoded p...

Pfam Domains

Sox_Naa 18–89UCSCSox developmental protein N terminal

HMG_boxaa 102–170UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 8

HGNC Previous Names

SRY (sex determining region Y)-box 8; SRY-box 8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014587.5

p.G422S

c.1264G>A

Surrounding Variants

1 paper

NM_014587.5

p.P418A

c.1252C>G

1 paper

NM_014587.5

p.P426L

c.1277C>T

4 papers

NM_014587.5

p.A416T

c.1246G>A

1 paper

NM_014587.5

p.A428T

c.1282G>A

1 paper

NM_014587.5

p.A428S

c.1282G>T

1 paper

NM_014587.5

p.Y415Y

c.1245C>T

1 paper

NM_014587.5

p.R413Q

c.1238G>A

1 paper

NM_014587.5

p.P431S

c.1291C>T

2 papers

NM_014587.5

p.G401S

c.1201G>A

3 papers

NM_014587.5

p.A388V

c.1163C>T

1 paper

NM_014587.5

p.D382G

c.1145A>G

4 papers

NM_014587.5

p.D382N

c.1144G>A