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.A312V

c.935C>T

Surrounding Variants

1 paper

NM_014587.5

p.Y303Y

c.909T>C

1 paper

NM_014587.5

p.Y303C

c.908A>G

1 paper

NM_014587.5

p.S323L

c.968C>T

2 papers

NM_014587.5

p.E298*

c.892G>T

1 paper

NM_014587.5

p.E298_Q301del4

c.892_902del12

1 paper

NM_014587.5

p.S327A

c.979T>G

1 paper

NM_014587.5

p.P328T

c.982C>A

1 paper

NM_014587.5

p.A295A

c.885C>A

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.A295delFs

c.883delG

1 paper

NM_014587.5

p.T331M

c.992C>T