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.K148R

c.443A>G

Surrounding Variants

1 paper

NM_014587.5

p.L143L

c.429G>T

3 papers

NM_014587.5

p.E156D

c.468G>C

3 papers

NM_014587.5

p.E156D

c.468G>T

1 paper

NM_014587.5

p.R159G

c.475C>G

1 paper

NM_014587.5

p.K163R

c.488A>G

1 paper

NM_014587.5

p.R175H

c.524G>A

1 paper

NM_014587.5

p.H195insFs

c.583dupC

1 paper

NM_014587.5

p.H195Q

c.585C>A

1 paper

NM_014587.5

p.H195Q

c.585C>G

1 paper

NM_014587.5

p.P196L

c.587C>T

1 paper

NM_014587.5

p.H213insFs

c.637dupC

1 paper

NM_014587.5

p.G223R

c.667G>A