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

6 papers

NM_006941.4

p.G218*

c.652G>T

Surrounding Variants

2 papers

NM_006941.4

p.P217delFs

c.650delG

2 papers

NM_006941.4

p.P217L

c.650C>T

1 paper

NM_006941.4

p.E219K

c.655G>A

2 papers

NM_006941.4

p.R215_H216delFs

c.644_648del5

2 papers

NM_006941.4

p.P217fs

c.649_650fs

1 paper

NM_006941.4

p.H216Q

c.648C>G

1 paper

NM_006941.4

p.H216Q

c.648C>A

1 paper

NM_006941.4

p.G220S

c.658G>A

1 paper

NM_006941.4

p.G220fs

c.658_659fs

1 paper

NM_006941.4

p.R215Q

c.644G>A

1 paper

NM_006941.4

p.S221P

c.661T>C

3 papers

NM_006941.4

p.R215fs

c.643_644fs