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

1–12 of 101 variants

5 papers

NM_014587.5

p.T226P

c.676A>C

5 papers

NM_014587.5

p.T229P

c.685A>C

4 papers

NM_014587.5

p.P11L

c.32C>T

4 papers

NM_014587.5

p.D382N

c.1144G>A

4 papers

NM_014587.5

p.A416T

c.1246G>A

3 papers

NM_014587.5

p.E156D

c.468G>C

3 papers

NM_014587.5

p.E156D

c.468G>T

3 papers

NM_014587.5

p.N263I

c.788A>T

3 papers

NM_014587.5

p.S267L

c.800C>T

3 papers

NM_014587.5

p.A388V

c.1163C>T

2 papers

NM_014587.5

p.G94del1

c.280_281delGGC

2 papers

NM_014587.5

p.A240T

c.718G>A