Varaico: Literature-Extracted Genetic Variants

SOX10

603 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 12–93UCSCSox developmental protein N terminal

HMG_boxaa 104–172UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

SRY-box transcription factor 10

HGNC Alias Symbols

DOM; WS4; WS2E; SOX-10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006941.4

p.E229fs

c.685_686fs

Surrounding Variants

1 paper

NM_006941.4

p.E229K

c.685G>A

1 paper

NM_006941.4

p.P228delFs

c.684delG

1 paper

NM_006941.4

p.P228P

c.684C>T

1 paper

NM_006941.4

p.P228T

c.682C>A

1 paper

NM_006941.4

p.H230Q

c.690C>G

3 papers

NM_006941.4

p.H230fs

c.688_689fs

1 paper

NM_006941.4

p.H230Q

c.690C>A

1 paper

NM_006941.4

p.G226E

c.677G>A

2 papers

NM_006941.4

p.H230delFs

c.690delG

1 paper

NM_006941.4

p.P228_P231delFs

c.684_693del10

1 paper

NM_006941.4

p.G226insFs

c.676_677insCA

1 paper

NM_006941.4

p.G233S

c.697G>A