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.R141Splc

c.422+5G>C

Surrounding Variants

1 paper

NM_014587.5

p.A113V

c.338C>T

1 paper

NM_014587.5

p.H101P

c.302A>C

1 paper

NM_014587.5

p.P100_H101delFs

c.298_301del4

1 paper

NM_014587.5

p.A98T

c.292G>A

2 papers

NM_014587.5

p.G94del1

c.280_281delGGC

1 paper

NM_014587.5

p.K77_G78delFs

c.231_232delGG

1 paper

NM_014587.5

p.V75_D80insFs

c.224_240dup17

1 paper

NM_014587.5

p.A66V

c.197C>T

1 paper

NM_014587.5

p.G38_R44delFs

c.112_131del20

1 paper

NM_014587.5

p.A32V

c.95C>T

1 paper

NM_014587.5

p.T18S

c.53C>G

1 paper

NM_014587.5

p.T18S

c.52A>T