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

1 paper

NM_014587.5

p.A279T

c.835G>A

Surrounding Variants

2 papers

NM_014587.5

p.V282I

c.844G>A

1 paper

NM_014587.5

p.D286N

c.856G>A

1 paper

NM_014587.5

p.D286E

c.858C>A

1 paper

NM_014587.5

p.D286E

c.858C>G

1 paper

NM_014587.5

p.Q287R

c.860A>G

3 papers

NM_014587.5

p.S267L

c.800C>T

1 paper

NM_014587.5

p.L291P

c.872T>C

3 papers

NM_014587.5

p.N263I

c.788A>T

1 paper

NM_014587.5

p.A295delFs

c.883delG

1 paper

NM_014587.5

p.A295T

c.883G>A

1 paper

NM_014587.5

p.A295fs

c.883_884fs

1 paper

NM_014587.5

p.A295A

c.885C>A